HPDB: Human Pigmentation Database
HPDB: Pigmentation Database 
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Sl no Reference Journal Publication year Allele Population Sub populations Gene SNP Amino acid change Trait Discovery OR (95% CI) Replication 1 OR (95% CI) Replication 2 OR (95% CI) p value Chromosome Functional Consequence
36 Montinell et al American journal of Human Biology 2012 C>T South American Brazilian MC1R rs3212345 NA Hair color NA NA NA NA 16 Intragenic
G>A South American Brazilian MC1R rs3212346 NA Hair color NA NA NA NA 16 Intragenic
37 Winney et al. European J of human genetics 2011 C>T European British Isles MC1R rs1805007 R151C Hair color NA NA NA NA 16 Intragenic
C>T European British Isles MC1R rs1805008 R160W Hair color NA NA NA NA 16 Intragenic
38 Kastelic et al. Croat Med J. 2012 A>G,T European Slovenian OCA2 rs7495174 NA Eye, Hair color NA NA NA NA 15 Intragenic
C>T European Slovenian MC1R rs1805008 NA Eye, Hair color NA NA NA NA 16 Intragenic
C>T European Slovenian OCA2 rs1800407 R419Q Eye, Hair color NA NA NA NA 15 Intragenic
G > A European Slovenian TYR rs1393350 NA Eye, Hair color NA NA NA NA 11 Intragenic
G>A European Slovenian HERC2 rs12913832 NA Eye, Hair color NA NA NA NA 15 Intragenic
39 Donnelly et al. Human Genetics 2012 T>A Asian East Asian OCA2 rs2703969 NA Eye color NA NA NA NA 15 Intragenic
T>C Asian East Asian OCA2 rs1800414 H591R Eye color NA NA NA NA 15 Intragenic
A>G Asian East Asian OCA2 rs11074314 NA Eye color NA NA NA NA 15 Intragenic
C>T Asian East Asian OCA2 rs12914687 NA Eye color NA NA NA NA 15 Intragenic
C>T Asian East Asian OCA2 rs1800407 R419Q Eye color NA NA NA NA 15 Intragenic
C>T Asian East Asian OCA2 rs1800404 NA Eye color NA NA NA NA 15 Intragenic
G>A Asian East Asian OCA2 rs2015343 NA Eye color NA NA NA NA 15 Intragenic
C>T Asian East Asian OCA2 rs4778136 NA Eye color NA NA NA NA 15 Intragenic
T>C Asian East Asian OCA2 rs746861 NA Eye color NA NA NA NA 15 Intragenic
G>A Asian East Asian OCA2 rs7170869 NA Eye color NA NA NA NA 15 Intragenic
C>G Asian East Asian OCA2 rs895828 NA Eye color NA NA NA NA 15 Intragenic
G>A Asian East Asian OCA2 rs4778138 NA Eye color NA NA NA NA 15 Intragenic
A>C Asian East Asian OCA2 rs4778241 NA Eye color NA NA NA NA 15 Intragenic
G>A Asian East Asian OCA2 rs7495174 NA Eye color NA NA NA NA 15 Intragenic
C>T Asian East Asian HERC2 rs1129038 NA Eye color NA NA NA NA 15 3 prime UTR
A>G Asian East Asian HERC2 rs7494942 NA Eye color NA NA NA NA 15 Intragenic
A>G Asian East Asian HERC2 rs12913832 NA Eye color NA NA NA NA 15 Intragenic
T>C Asian East Asian HERC2 rs3935591 NA Eye color NA NA NA NA 15 Intragenic
T>A Asian East Asian HERC2 rs7170852 NA Eye color NA NA NA NA 15 Intragenic
T>C Asian East Asian HERC2 rs916977 NA Eye color NA NA NA NA 15 Intragenic
G>A Asian East Asian HERC2 rs1667394 NA Eye color NA NA NA NA 15 Intragenic
40 Pneuman et al. Legal medicine 2012 G>A Others African-American, South Asian, East Asian , European HERC2 rs12913832 NA Eye, skin color NA NA NA NA 15 Intragenic
A>T Others African-American, South Asian, East Asian , European OCA2 rs1545397 NA Eye, skin color NA NA NA NA 15 Intragenic
C>T Others African-American, South Asian, East Asian , European OCA2 rs1800407 R419Q Eye, skin color NA NA NA NA 15 Intragenic
C>A,G Others African-American, South Asian, East Asian , European SLC45A2 rs16891982 NA Eye, skin color NA NA NA NA 5 Intragenic
A>G,T Others African-American, South Asian, East Asian , European SLC24A5 rs1426654 NA Eye, skin color NA NA NA NA 15 Intragenic
G>A Others African-American, South Asian, East Asian , European TYR rs1393350 NA Eye, skin color NA NA NA NA 11 Intragenic
G>A,T Others African-American, South Asian, East Asian , European SLC24A4 rs12896399 NA Eye, skin color NA NA NA NA 14 Intragenic
G>A Others African-American, South Asian, East Asian , European MC1R rs885479 NA Eye, skin color NA NA NA NA 16 Intragenic
C>A,G Others African-American, South Asian, East Asian , European ASIP rs6119471 NA Eye, skin color NA NA NA NA 20 Intragenic
C>G,T Others African-American, South Asian, East Asian , European IRF4 rs12203592 NA Eye, skin color NA NA NA NA 6 Intragenic

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