File:Imputation, fine-mapping, and positive selection scores for human skin and eye color loci.png

English: Imputation, fine-mapping, and selective signature scores for skin and eye color loci. Each panel shows the genotype-association results and the distribution of Composite of Multiple Signals scores of positive selection (CMS scores)[1] for genotyped and imputed SNPs (dark and light blue points in the association plots, respectively) surrounding the candidate loci; identities of individual SNPs are given in Table below. Dashed red lines correspond to the genome-wide significance thresholds. (a) 5p13.3 region containing the SLC45A2 gene. (b) 11q14.3 region containing the GRM5 and TYR genes. (c) 15q21.1 region containing the SLC24A5 gene. (d) 15q13.1 region containing the OCA2, HERC2 and APBA2 genes. The interval between HERC2 and APBA2 contains a cluster of segmental duplications and a paucity of SNPs, and is also a source of a frequent deletion breakpoint as described in the Discussion. Previously identified candidate causative non-synonymous variants are denoted as red dots in the association plots of panels (a,b,c). The location and identity of candidate genes are colored to correspond with chromosomal location; individual SNPs are given in Table below.