HPDB: Human Pigmentation Database
HPDB: Pigmentation Database 
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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
26 Bouakaze et al. International Journal of Legal Medicine 2009 C>A,G,T European, African, Asian European, African, Asian MC1R rs1805007 NA Skin, Hair, Eye color NA NA NA NA 16 Exonic NA
International Journal of Legal Medicine C>T European, African, Asian European, African, Asian MC1R rs1805008 NA Skin, Hair, Eye color NA NA NA NA 16 Exonic NA
International Journal of Legal Medicine G>A European, African, Asian European, African, Asian HERC2 rs12913832 NA Skin, Hair, Eye color NA NA NA NA 15 Intronic NA
International Journal of Legal Medicine A>G,T European, African, Asian European, African, Asian OCA2 rs7495174 NA Skin, Hair, Eye color NA NA NA NA 15 Intronic NA
International Journal of Legal Medicine A>C European, African, Asian European, African, Asian OCA2 rs6497268 NA Skin, Hair, Eye color NA NA NA NA 15 Intronic NA
International Journal of Legal Medicine A>C,G,T European, African, Asian European, African, Asian OCA2 rs11855019 NA Skin, Hair, Eye color NA NA NA NA 15 Intronic NA
International Journal of Legal Medicine A>T European, African, Asian European, African, Asian OCA2 rs1545397 NA Skin, Hair, Eye color NA NA NA NA 15 Intronic NA
International Journal of Legal Medicine C>A,G European, African, Asian European, African, Asian SLC45A2 rs16891982 NA Skin, Hair, Eye color NA NA NA NA 5 Exonic Missence
International Journal of Legal Medicine A>G,T European, African, Asian European, African, Asian SLC24A5 rs1426654 NA Skin, Hair, Eye color NA NA NA NA 15 Exonic Missence
International Journal of Legal Medicine A>G European, African, Asian European, African, Asian DCT rs2031526 NA Skin, Hair, Eye color NA NA NA NA 13 Intronic NA
27 Edwards et al. PLOS Genetics 2010 T>C Asian Canadian East Asian OCA2 rs1800414 His615Arg Skin color NA NA NA NA 15 Exonic Missence
PLOS Genetics A>G Asian Canadian East Asian OCA2 rs7495174 NA Skin color NA NA NA NA 15 Intronic NA
PLOS Genetics A>T Asian Canadian East Asian OCA2 rs1545397 NA Skin color NA NA NA NA 15 Intronic NA
PLOS Genetics C>T Asian Canadian East Asian DCT rs1407995 NA Skin color NA NA NA NA 13 Intronic NA
PLOS Genetics A>G Asian Canadian East Asian DCT rs2031526 NA Skin color NA NA NA NA 13 Intronic NA
PLOS Genetics C>T Asian Canadian East Asian ADAM17 rs4328603 NA Skin color NA NA NA NA 2 Intronic NA
PLOS Genetics C>T Asian Canadian East Asian ADAMTS20 rs11182091 NA Skin color NA NA NA NA 12 Intronic NA
PLOS Genetics C>T Asian Canadian East Asian ADAMTS20 rs1510523 NA Skin color NA NA NA NA 12 Intronic NA
PLOS Genetics A>G Asian Canadian East Asian ADAMTS20 rs11182085 NA Skin color NA NA NA NA 12 Intronic NA
PLOS Genetics A>C Asian Canadian East Asian TYRP1 rs2075509 NA Skin color NA NA NA NA 9 Intronic NA
28 Walsh et al. Forensic Science International: Genetics 2011 G>A European European HERC2 rs12913832 NA Eye color NA NA NA NA 15 Intronic NA
Forensic Science International: Genetics A>T Asian Asian OCA2 rs1545397 NA Eye color NA NA NA NA 15 Intronic NA
Forensic Science International: Genetics G>C European European SLC45A2 rs16891982 NA Eye color NA NA NA NA 5 Exonic Missence
Forensic Science International: Genetics A>G,T European European SLC24A5 rs1426654 NA Eye color NA NA NA NA 15 Exonic NA
Forensic Science International: Genetics G>A Asian Asian MC1R rs885479 NA Eye color NA NA NA NA 16 Exonic NA
Forensic Science International: Genetics C>A,G African African ASIP rs6119471 NA Eye color NA NA NA NA 20 Intronic NA
Forensic Science International: Genetics C>T African African IRF4 rs12203592 NA Eye color NA NA NA NA 6 Intronic NA
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 Exonic Missence
Journal of Forensic Sciences G>A North American Arizona OCA2 rs1800402 NA Skin, Hair, Eye color NA NA NA NA 15 Exonic Synonymous
Journal of Forensic Sciences C>T North American Arizona OCA2 rs1800407 Arg419Gln Skin, Hair, Eye color NA NA NA NA 15 Exonic Missence
Journal of Forensic Sciences A>G,T North American Arizona SLC24A5 rs1426654 NA Skin, Hair, Eye color NA NA NA NA 15 Exonic NA
Journal of Forensic Sciences A>G North American Arizona ASIP rs6058017 NA Skin, Hair, Eye color NA NA NA NA 20 3 prime UTR NA
30 Spichenok et al. Forensic Science International: Genetics 2011 G>A European, African- American, Asian European, African- American, Asian HERC2 rs12913832 NA Eye, Skin color NA NA NA NA 15 Intronic NA
Forensic Science International: Genetics A>T European, African- American, Asian European, African- American, Asian OCA2 rs1545397 NA Eye, Skin color NA NA NA NA 15 Intronic NA
Forensic Science International: Genetics G>C European, African- American, Asian European, African- American, Asian SLC45A2 rs16891982 NA Eye, Skin color NA NA NA NA 5 Exonic Missence
Forensic Science International: Genetics A>G,T European, African- American, Asian European, African- American, Asian SLC24A5 rs1426654 NA Eye, Skin color NA NA NA NA 15 Exonic NA
Forensic Science International: Genetics G>A European, African- American, Asian European, African- American, Asian MC1R rs885479 NA Eye, Skin color NA NA NA NA 16 Exonic Missence
Forensic Science International: Genetics C>A,G European, African- American, Asian European, African- American, Asian ASIP rs6119471 NA Eye, Skin color NA NA NA NA 20 Intronic NA
Forensic Science International: Genetics C>T European, African- American, Asian European, African- American, Asian IRF4 rs12203592 NA Eye, Skin color NA NA NA NA 6 Intronic NA

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