Table 1.

SNPs Used for LD Analysis of ABCB1 in 24 CEPH Trios

SNP ID	Position^a	dbSNP ID	Ancestral alleles	Location^b	A1^c	A2,3^c	*f(1)*^d	*f(2)*^d	*f(3)*^d	*f(1/1)*^e	*f(1/2)*^e	*f(2/2)*^e	*f(2/3)*^e	χ²^f	⁶P^f	r²vs. 3435C>T^g
1	12504716	rs2157926	A	5′ UTR	A	T	1	0		1	0	0		—	—	—
2	12455102	rs3789243	—	IVS 3+4196 A>G	A	G	0.489	0.511		0.250	0.477	0.273		0.089	0.766	0.17
3	12438056	rs1202180	A	IVS 4+10988 A>G	A	G	0.689	0.311		0.489	0.400	0.111		0.201	0.654	0.13
4	12430178	rs1202168	C	IVS 6+139 C>T	C	T	0.536	0.464		0.214	0.643	0.143		3.589	0.058	0.24
5	12430066	rs1202169	A	IVS 6+251 A>G	A	G	0.536	0.464		0.214	0.643	0.143		3.589	0.058	0.24
6	12413817	rs1128503	C	1236C>T	C	T	0.544	0.457		0.239	0.609	0.152		2.363	0.124	0.13
7	12413659	rs2032588	C	IVS 12+44 C>T	C	T	0.940	0.060		0.900	0.080	0.020		4.228	0.040	—
8	12408282	rs2235046	G	IVS 16+73 G>A	G	A	0.467	0.533		0.152	0.630	0.217		3.261	0.071	0.37
9	12402243	rs3789246	C	IVS 19+557 C>T	C	T	0.958	0.042		0.917	0.083	0.000		0.091	0.763	—
10	12394834	rs2032582	G	2677G>T,A	G	T,A	0.472	0.493	0.0347	0.208	0.528	0.194	0.0694	0.804	0.370	0.32
11	12372861	rs1045642	C	3435C>T	C	T	0.396	0.604		0.104	0.583	0.313		2.315	0.128	—
12	12371234	rs1882478	T	IVS 26+1573 T>C	C	T	0.750	0.250		0.546	0.409	0.046		0.364	0.547	0.36
13	12371123	—	C	IVS 26+1684 C>T	C	T	0.773	0.227		0.591	0.364	0.046		0.055	0.815	0.31
14	12368209	rs1186746	T	IVS 27+1220 T>C	C	T	0.192	0.809		0.043	0.298	0.660		0.068	0.794	0.20
15	12368163	rs1186745	C	IVS 27+1266 C>A	A	C	0.117	0.883		0.000	0.234	0.766		0.826	0.364	0.02
16	12356238	rs2178658	G	IVS 28+11158 G>T	G	T	0.702	0.298		0.447	0.511	0.043		2.291	0.130	0.06
17	12356176	—	A	IVS 28+11220 A>G	A	G	0.198	0.802		0.042	0.313	0.646		0.012	0.913	0.06

↵a SNP position within the reference contig (GenBank acc. no. NT_007933). ^bDerived from sequencing in chimp, ^calternative alleles of one locus, ^dallelic frequencies in unrelated CEPH individuals, ^egenotypic frequencies, ^fχ² and P-values for test of fit to Hardy-Weinberg equilibrium, ^gpairwise LD values against 3435C>T.

Identifying Candidate Causal Variants Responsible for Altered Activity of the ABCB1 Multidrug Resistance Gene