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. 2014 Mar 10;111(13):4832–4837. doi: 10.1073/pnas.1316513111

Table 1.

Allele frequencies of three functional SNPs associated with pigmentation in ancient and modern populations

Derived allele frequency
Gene SNP Polymorphism Europe Asia Africa Modern Ukrainian sample Ancient sample
HERC2 rs12913832 regulatory element (OCA2) A > G 0.710 [758] 0.002 [572] 0.000 [370] 0.651 (0.546–0.744) [86] 0.160 (0.099–0.247) [94]
SLC45A2 (MATP) rs16891982 Leu374Phe C > G 0.970 [758] 0.007 [572] 0.000 [370] 0.927 (0.849–0.965) [82] 0.432 (0.296–0.578) [44]
TYR rs1042602 Ser192Tyr C > A 0.368 [758] 0.002 [572] 0.000 [370] 0.367 (0.279–0.466) [98] 0.043 (0.018–0.106) [92]

Modern allele frequencies are from 1000 Genomes (http://browser.1000genomes.org) (65). Range in parentheses indicates the equal-tailed 95% confidence interval calculated as described using the qbeta function in R (66). Numbers in square brackets indicate 2N individuals. The African American (ASW) data from 1000 Genomes were excluded because this population is admixed to an unknown extent.