HPDB: Human Pigmentation Database
FAQs


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
26 Bouakaze et al. International J of legal medicine 2009 C>A,G,T Asian Siberia MC1R rs1805007 NA Skin, hair, eye color NA NA NA NA 16 Intragenic
C>T Asian Siberia MC1R rs1805008 NA Skin, hair, eye color NA NA NA NA 16 Intragenic
G>A Asian Siberia HERC2 rs12913832 NA Skin, hair, eye color NA NA NA NA 15 Intragenic
A>G,T Asian Siberia OCA2 rs7495174 NA Skin, hair, eye color NA NA NA NA 15 Intragenic
A>C Asian Siberia OCA2 rs6497268 NA Skin, hair, eye color NA NA NA NA 15 Intragenic
A>C,G,T Asian Siberia OCA2 rs11855019 NA Skin, hair, eye color NA NA NA NA 15 Intragenic
A>T Asian Siberia OCA2 rs1545397 NA Skin, hair, eye color NA NA NA NA 15 Intragenic
C>A,G Asian Siberia SLC45A2 rs16891982 NA Skin, hair, eye color NA NA NA NA 5 Intragenic
A>G,T Asian Siberia SLC24A5 rs1426654 NA Skin, hair, eye color NA NA NA NA 15 Intragenic
A>G Asian Siberia DCT rs2031526 NA Skin, hair, eye color NA NA NA NA 13 Intragenic
27 Edwards et al. Plos Genetics 2010 T>C Asian Canadian East Asian OCA2 rs1800414 H591R Skin color NA NA NA NA 15 Intragenic
A>G Asian Canadian East Asian OCA2 rs7495174 NA Skin color NA NA NA NA 15 Intragenic
A>T Asian Canadian East Asian OCA2 rs1545397 NA Skin color NA NA NA NA 15 Intragenic
C>T Asian Canadian East Asian DCT rs1407995 NA Skin color NA NA NA NA 13 Intragenic
A>G Asian Canadian East Asian DCT rs2031526 NA Skin color NA NA NA NA 13 Intragenic
C>T Asian Canadian East Asian ADAM17 rs4328603 NA Skin color NA NA NA NA 2 Intragenic
C>T Asian Canadian East Asian ADAMTS20 rs11182091 NA Skin color NA NA NA NA 12 Intragenic
C>T Asian Canadian East Asian ADAMTS20 rs1510523 NA Skin color NA NA NA NA 12 Intragenic
A>G Asian Canadian East Asian ADAMTS20 rs11182085 NA Skin color NA NA NA NA 12 Intragenic
A>C Asian Canadian East Asian TYRP1 rs2075509 NA Skin color NA NA NA NA 9 Intragenic
28 Walsh et al. Forensic Science International: Genetics 2011 G>A European European HERC2 rs12913832 NA Eye color NA NA NA NA 15 Intragenic
A>T Asian Asian OCA2 rs1545397 NA Eye color NA NA NA NA 15 Intragenic
G>C European European SLC45A2 rs16891982 NA Eye color NA NA NA NA 5 Intragenic
A>G,T European European SLC24A5 rs1426654 NA Eye color NA NA NA NA 15 Intragenic
G>A Asian Asian MC1R rs885479 NA Eye color NA NA NA NA 16 Intragenic
C>A,G African African ASIP rs6119471 NA Eye color NA NA NA NA 20 Intragenic
C > T African African IRF4 rs12203592 NA Eye color NA NA NA NA 6 Intragenic
29 Valenzuela et al. Journal of Forensic sciences 2010 C>T North American Arizona OCA2 rs1800401 NA Skin, hair, eye color NA NA NA NA 15 Intragenic
G>A North American Arizona OCA2 rs1800402 NA Skin, hair, eye color NA NA NA NA 15 Intragenic
C>T North American Arizona OCA2 rs1800407 R419Q Skin, hair, eye color NA NA NA NA 15 Intragenic
A>G,T North American Arizona SLC24A5 rs1426654 NA Skin, hair, eye color NA NA NA NA 15 Intragenic
A>G North American Arizona ASIP rs6058017 NA Skin, hair, eye color NA NA NA NA 20 Intragenic
30 Spichenok et al. Forensic Science International: Genetics 2011 G>A Admixed European, African- American , Asian HERC2 rs12913832 NA Eye, skin color NA NA NA NA 15 Intragenic
A>T Admixed European, African- American , Asian OCA2 rs1545397 NA Eye, skin color NA NA NA NA 15 Intragenic
G>C Admixed European, African- American , Asian SLC45A2 rs16891982 NA Eye, skin color NA NA NA NA 5 Intragenic
A>G,T Admixed European, African- American , Asian SLC24A5 rs1426654 NA Eye, skin color NA NA NA NA 15 Intragenic
G>A Admixed European, African- American , Asian MC1R rs885479 NA Eye, skin color NA NA NA NA 16 Intragenic
C>A,G Admixed European, African- American , Asian ASIP rs6119471 NA Eye, skin color NA NA NA NA 20 Intragenic
C > T Admixed European, African- American , Asian IRF4 rs12203592 NA Eye, skin color NA NA NA NA 6 Intragenic

Ideated by Genophen Lab,   BHU    &   Bioclues