Imputation, fine-mapping, and selective signature scores for skin and eye color loci.

<p>Each panel shows the genotype-association results and the distribution of Composite of Multiple Signals scores of positive selection (CMS scores) <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1003372#pgen.1003372-Grossman1" target="_blank">[38]</a> 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 <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1003372#pgen-1003372-t001" target="_blank">Table 1</a>. Dashed red lines correspond to the genome-wide significance thresholds. (a) 5p13.3 region containing the <i>SLC45A2</i> gene. (b) 11q14.3 region containing the <i>GRM5</i> and <i>TYR</i> genes. (c) 15q21.1 region containing the <i>SLC24A5</i> gene. (d) 15q13.1 region containing the <i>OCA2</i>, <i>HERC2</i> and <i>APBA2</i> genes. The interval between <i>HERC2</i> and <i>APBA2</i> contains a cluster of segmental duplications and a paucity of SNPs <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1003372#pgen.1003372-Makoff1" target="_blank">[45]</a>, and is also a source of a frequent deletion breakpoint as described in the <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1003372#s3" target="_blank">Discussion</a>. Previously identified candidate causative non-synonymous variants <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1003372#pgen.1003372-Shriver1" target="_blank">[11]</a>, <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1003372#pgen.1003372-Lamason1" target="_blank">[13]</a>, <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1003372#pgen.1003372-Norton1" target="_blank">[14]</a> 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 <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1003372#pgen-1003372-t001" target="_blank">Table 1</a>.