Genetically indistinguishable SNPs and their influence on inferring the location of disease-associated variants

Table 1.

GiSNP statistics for SNPs genotyped across Chromosome 20 in four population samples


Population

African American

Asian

CEPH

UK Unrelateds
Sample size 97 42 47 Founders 91
Total SNPs 33,206 25,719 28,223 28,460
Total giSNPs 10,081 16,506 17,464 15,680
% of all SNPs that are giSNPs 30.3% 64.2% 61.9% 55.1%
Total giSNP clusters 3527 4060 4527 4313
Mean giSNP cluster length 11.6 kb 14.8 kb 15.3 kb 13.7 kb
Median giSNP cluster length 3.5 kb 5.5 kb 5.7 kb 5.1 kb
Mean number of giSNPs per cluster 2.9 4.1 3.9 3.6
MAF 0-10% giSNPs 2473 (24.5%) 2704 (16.4%) 3108 (17.8%) 3423 (21.8%)
MAF 10-20% giSNPs 2376 (23.6%) 3764 (22.8%) 3883 (22.2%) 3125 (19.9%)
MAF 20-30% giSNPs 1994 (19.8%) 3571 (21.6%) 3848 (22.0%) 3248 (20.7%)
MAF 30-40% giSNPs 1736 (17.2%) 3571 (21.6%) 3607 (20.7%) 2983 (19.0%)
MAF 40-50% giSNPs
1499 (14.9%)
2894 (17.5%)
3018 (17.3%)
2901 (18.5%)
  • SNPs with only one or two heterozygotes were removed from the analysis, resulting in lowered levels of MAF <10% SNPs.

This Article

  1. Genome Res. 15: 1503-1510

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