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
41 Candille et al. PLOS One 2012 C>T European European LCT rs932206 NA NA NA NA NA 8.20E-13 2 NA NA
PLOS One G>A,C,T European European LCT rs10868841 NA NA NA NA NA 5.50E-08 9 Intronic NA
PLOS One C>T European European OCA2 rs1667394 NA Eye color NA NA NA 5.40E-17 15 Intronic NA
PLOS One A>G,T European European OCA2 rs11046263 NA NA NA NA NA 3.90E-10 15 NA NA
PLOS One C>T European European OCA2 rs10793902 NA NA NA NA NA 1.50E-07 15 NA NA
PLOS One C>T European European SCIN rs702477 NA Eye color NA NA NA NA 7 Intronic NA
PLOS One C>T European European HERC2 rs8039195 NA Eye color NA NA NA NA 15 Intronic NA
PLOS One T>C European European SCIN rs886890 NA Eye color NA NA NA NA 7 Intronic NA
PLOS One T>G European European HERC2 rs1635168 NA NA NA NA NA NA 15 Intronic NA
PLOS One A>G European European FLNB rs9809315 NA Skin color NA NA NA NA 3 Intronic NA
PLOS One A>G European European FLNB rs2033739 NA Skin color NA NA NA NA 3 Intronic NA
PLOS One C>T European European GTF2H5, TULP4 rs262825 NA Hair color NA NA NA NA 6 Intronic NA
42 Mukherjee et al. Journal of Genetics 2013 C>G South Asian Indian SLC45A2 rs16891982 His615Arg Skin color NA NA NA NA 5 Exonic Missence
Journal of Genetics C>T South Asian Indian SLC45A2 rs26722 Glu272Lys Skin color NA NA NA NA 5 Intronic NA
Journal of Genetics G>A South Asian Indian SLC24A5 rs1426654 Ala111Thr Skin color NA NA NA NA 15 Exonic NA
Journal of Genetics G>A South Asian Indian MC1R rs885479 Arg163Gln Hair, Skin color NA NA NA NA 16 Exonic NA
Journal of Genetics C>T South Asian Indian TYRP1 rs2733832 NA Skin color NA NA NA NA 9 Exonic NA
43 Beleza et al. PLOS Genetics 2013 A>G,T European African European African SLC24A5 rs1426654 NA Eye, Skin color NA NA NA NA 15 Exonic NA
PLOS Genetics A>C,G,T European African European African GRM5, TYR rs10831496 NA Eye, Skin color NA NA NA NA 11 Intronic NA
PLOS Genetics C>A,G,T European African European African APBA2 rs4424881 NA Eye, Skin color NA NA NA NA 15 Intronic NA
PLOS Genetics T>C European African European African SLC45A2 rs35395 NA Eye, Skin color NA NA NA NA 5 Intronic NA
PLOS Genetics G>A European African European African HERC2 rs12913832 NA Eye, Skin color NA NA NA NA 15 Intronic NA
PLOS Genetics A>C,G European African European African SLC24A5 rs2470102 NA Eye, Skin color NA NA NA NA 15 Intronic NA
44 Jacobs et al. Human Genetics 2013 G>T European Danish UGT1A8 rs6742078 NA Skin color NA NA NA NA 2 Intronic NA
Human Genetics C>T European Danish IRF4 rs12203592 NA Skin color NA NA NA NA 6 Intronic NA
Human Genetics G>A,C,T European Danish BNC2 rs10756819 NA Skin color NA NA NA NA 9 Intronic NA
Human Genetics A>G European Danish GATA3 rs376397 NA Skin color NA NA NA NA 10 Intronic NA
Human Genetics G>A European Danish TYR rs1393350 NA Skin color NA NA NA NA 11 Intronic NA
Human Genetics A>G European Danish SLC24A4 rs17128291 NA Skin color NA NA NA NA 14 Intronic NA
Human Genetics A>G,T European Danish OCA2 rs7495174 NA Skin color NA NA NA NA 15 Intronic NA
Human Genetics G>A European Danish HERC2 rs12913832 NA Skin color NA NA NA NA 15 Intronic NA
Human Genetics T>A,C European Danish SLC24A5 rs17426596 NA Skin color NA NA NA NA 15 Intronic NA
Human Genetics C>T European Danish MC1R rs1805007 NA Skin color NA NA NA NA 16 Exonic NA
Human Genetics A>G European Danish ASIP rs4911442 NA Skin color NA NA NA NA 20 Intronic NA
45 Walsh et al. Forensic Science International: Genetics 2013 G>A European European MC1R rs11547464 NA Eye, Hair color NA NA NA NA 16 Exonic NA
Forensic Science International: Genetics G>A European European MC1R rs885479 NA Eye, Hair color NA NA NA NA 16 Exonic NA
Forensic Science International: Genetics C>T European European MC1R rs1805008 NA Eye, Hair color NA NA NA NA 16 Exonic NA
Forensic Science International: Genetics G>T European European MC1R rs1805005 NA Eye, Hair color NA NA NA NA 16 Exonic NA
Forensic Science International: Genetics C>A European European MC1R rs1805006 NA Eye, Hair color NA NA NA NA 16 Exonic NA
Forensic Science International: Genetics C>T European European MC1R rs1805007 NA Eye, Hair color NA NA NA NA 16 Exonic NA
Forensic Science International: Genetics G>A,C European European MC1R rs1805009 NA Eye, Hair color NA NA NA NA 16 Exonic NA
Forensic Science International: Genetics G>A European European MC1R rs2228479 NA Eye, Hair color NA NA NA NA 16 Exonic NA
Forensic Science International: Genetics T>C European European MC1R rs1110400 NA Eye, Hair color NA NA NA NA 16 Exonic NA
Forensic Science International: Genetics C>A European European SLC45A2 rs28777 NA Eye, Hair color NA NA NA NA 5 Intronic NA
Forensic Science International: Genetics G>C European European SLC45A2 rs16891982 NA Eye, Hair color NA NA NA NA 5 Exonic Missence
Forensic Science International: Genetics T>A,C,G European European KITLG rs12821256 NA Eye, Hair color NA NA NA NA 12 NA NA
Forensic Science International: Genetics C>A,G,T European European EXOC2 rs4959270 NA Eye, Hair color NA NA NA NA 6 NA NA
Forensic Science International: Genetics C>T European European IRF4 rs12203592 NA Eye, Hair color NA NA NA NA 6 Intronic NA
Forensic Science International: Genetics C>A European European TYR rs1042602 NA Eye, Hair color NA NA NA NA 11 Exonic NA
Forensic Science International: Genetics C>T European European OCA2 rs1800407 Arg419Gln Eye, Hair color NA NA NA NA 15 Exonic Missence
Forensic Science International: Genetics G>A,C,T European European SLC24A4 rs2402130 NA Eye, Hair color NA NA NA NA 14 Intronic NA
Forensic Science International: Genetics G>A European European HERC2 rs12913832 NA Eye, Hair color NA NA NA NA 15 Intronic NA
Forensic Science International: Genetics G>A,C European European ASIP rs2378249 NA Eye, Hair color NA NA NA NA 20 Intronic NA
Forensic Science International: Genetics G>T European European SLC24A4 rs12896399 NA Eye, Hair color NA NA NA NA 14 Intronic NA
Forensic Science International: Genetics G>A European European TYR rs1393350 NA Eye, Hair color NA NA NA NA 11 Intronic NA
Forensic Science International: Genetics C>A European European TYRP1 rs683 NA Eye, Hair color NA NA NA NA 9 3 prime UTR NA

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