HPDB: Human Pigmentation Database
HPDB: Pigmentation Database 
  Home | Catalogue | Contributors | FAQ | Bioclues
FAQs


Sl. No. Reference Journal Publication Year Allele Population Sub Population Gene SNP Amino Acid Change Trait Discovery OR (95% CI) Replication 1 OR (95% CI) Replication 2 OR (95% CI) p-Value Chromosome Variant location Variant Type
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 Intronic NA
American Journal of Human Biology G>A South American Brazilian MC1R rs3212346 NA Hair color NA NA NA NA 16 Intronic NA
37 Winney et al. European Journal of Human Genetics 2011 C>T European British Isles MC1R rs1805007 Arg151Cys Hair color NA NA NA NA 16 Exonic Missence
European Journal of Human Genetics C>T European British Isles MC1R rs1805008 Arg160Trp Hair color NA NA NA NA 16 Exonic Missence
38 Kastelic et al. Croatian Medical Journal 2012 A>G,T European Slovenian OCA2 rs7495174 NA Eye, Hair color NA NA NA NA 15 Intronic NA
Croatian Medical Journal C>T European Slovenian MC1R rs1805008 NA Eye, Hair color NA NA NA NA 16 Exonic Missence
Croatian Medical Journal C>T European Slovenian OCA2 rs1800407 Arg419Gln Eye, Hair color NA NA NA NA 15 Exonic Missence
Croatian Medical Journal G>A European Slovenian TYR rs1393350 NA Eye, Hair color NA NA NA NA 11 Intronic NA
Croatian Medical Journal G>A European Slovenian HERC2 rs12913832 NA Eye, Hair color NA NA NA NA 15 Intronic NA
39 Donnelly et al. Human Genetics 2012 T>A Asian East Asian OCA2 rs2703969 NA Eye color NA NA NA NA 15 Intronic NA
Human Genetics T>C Asian East Asian OCA2 rs1800414 His615Arg Eye color NA NA NA NA 15 Exonic Missence
Human Genetics A>G Asian East Asian OCA2 rs11074314 NA Eye color NA NA NA NA 15 Intronic NA
Human Genetics C>T Asian East Asian OCA2 rs12914687 NA Eye color NA NA NA NA 15 Intronic NA
Human Genetics C>T Asian East Asian OCA2 rs1800407 Arg419Gln Eye color NA NA NA NA 15 Exonic Missence
Human Genetics C>T Asian East Asian OCA2 rs1800404 NA Eye color NA NA NA NA 15 Exonic Synonymous
Human Genetics G>A Asian East Asian OCA2 rs2015343 NA Eye color NA NA NA NA 15 Intronic NA
Human Genetics C>T Asian East Asian OCA2 rs4778136 NA Eye color NA NA NA NA 15 Intronic NA
Human Genetics T>C Asian East Asian OCA2 rs746861 NA Eye color NA NA NA NA 15 Intronic NA
Human Genetics G>A Asian East Asian OCA2 rs7170869 NA Eye color NA NA NA NA 15 Intronic NA
Human Genetics C>G Asian East Asian OCA2 rs895828 NA Eye color NA NA NA NA 15 Intronic NA
Human Genetics G>A Asian East Asian OCA2 rs4778138 NA Eye color NA NA NA NA 15 Intronic NA
Human Genetics A>C Asian East Asian OCA2 rs4778241 NA Eye color NA NA NA NA 15 Intronic NA
Human Genetics G>A Asian East Asian OCA2 rs7495174 NA Eye color NA NA NA NA 15 Intronic NA
Human Genetics C>T Asian East Asian HERC2 rs1129038 NA Eye color NA NA NA NA 15 3 prime UTR NA
Human Genetics A>G Asian East Asian HERC2 rs7494942 NA Eye color NA NA NA NA 15 Intronic NA
Human Genetics A>G Asian East Asian HERC2 rs12913832 NA Eye color NA NA NA NA 15 Intronic NA
Human Genetics T>C Asian East Asian HERC2 rs3935591 NA Eye color NA NA NA NA 15 Intronic NA
Human Genetics T>A Asian East Asian HERC2 rs7170852 NA Eye color NA NA NA NA 15 Intronic NA
Human Genetics T>C Asian East Asian HERC2 rs916977 NA Eye color NA NA NA NA 15 Intronic NA
Human Genetics G>A Asian East Asian HERC2 rs1667394 NA Eye color NA NA NA NA 15 Intronic NA
40 Pneuman et al. Legal Medicine 2012 G>A African-American, South Asian, East Asian, European African-American, South Asian, East Asian, European HERC2 rs12913832 NA Eye, Skin color NA NA NA NA 15 Intronic NA
Legal Medicine A>T African-American, South Asian, East Asian, European African-American, South Asian, East Asian, European OCA2 rs1545397 NA Eye, Skin color NA NA NA NA 15 Intronic NA
Legal Medicine C>T African-American, South Asian, East Asian, European African-American, South Asian, East Asian, European OCA2 rs1800407 Arg419Gln Eye, Skin color NA NA NA NA 15 Exonic Missence
Legal Medicine C>A,G African-American, South Asian, East Asian, European African-American, South Asian, East Asian, European SLC45A2 rs16891982 NA Eye, Skin color NA NA NA NA 5 Exonic Missence
Legal Medicine A>G,T African-American, South Asian, East Asian, European African-American, South Asian, East Asian, European SLC24A5 rs1426654 NA Eye, Skin color NA NA NA NA 15 Exonic NA
Legal Medicine G>A African-American, South Asian, East Asian, European African-American, South Asian, East Asian, European TYR rs1393350 NA Eye, Skin color NA NA NA NA 11 Intronic NA
Legal Medicine G>A,T African-American, South Asian, East Asian, European African-American, South Asian, East Asian, European SLC24A4 rs12896399 NA Eye, Skin color NA NA NA NA 14 Intronic NA
Legal Medicine G>A African-American, South Asian, East Asian, European African-American, South Asian, East Asian, European MC1R rs885479 NA Eye, Skin color NA NA NA NA 16 Exonic Missence
Legal Medicine C>A,G African-American, South Asian, East Asian, European African-American, South Asian, East Asian, European ASIP rs6119471 NA Eye, Skin color NA NA NA NA 20 Intronic NA
Legal Medicine C>G,T African-American, South Asian, East Asian, European African-American, South Asian, East Asian, European IRF4 rs12203592 NA Eye, Skin color NA NA NA NA 6 Intronic NA

Ideated by Genophen Lab,   BHU    &   Bioclues