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
41 Candille et al Plos One 2012 C>T European European LCT rs932206 NA NA NA NA NA 8.2×10?13 2 NA
G>A,C,T European European LCT rs10868841 NA NA NA NA NA 5.5×10?8 9 Intragenic
C>T European European OCA2 rs1667394 NA Eye color NA NA NA 5.4×10?17 15 Intragenic
A>G,T European European OCA2 rs11046263 NA NA NA NA NA 3.9×10?10 15 NA
C>T European European OCA2 rs10793902 NA NA NA NA NA 1.5×10?7 15 NA
C>T European European SCIN rs702477 NA Eye color NA NA NA NA 7 Intragenic
C>T European European HERC2 rs8039195 NA Eye color NA NA NA NA 15 Intragenic
T>C European European SCIN rs886890 NA Eye color NA NA NA NA 7 Intragenic
T>G European European HERC2 rs1635168 NA NA NA NA NA NA 15 Intragenic
A>G European European FLNB rs9809315 NA Skin color NA NA NA NA 3 Intragenic
A>G European European FLNB rs2033739 NA Skin color NA NA NA NA 3 Intragenic
C>T European European GTF2H5, TULP4 rs262825 NA Hair color NA NA NA NA 6 Intragenic
42 Mukherjee et al. Journal of Genetics 2013 C>G South Asian Indian SLC45A2 rs16891982 L374F Skin color NA NA NA NA 5 Intragenic
C>T South Asian Indian SLC45A2 rs26722 E272K Skin color NA NA NA NA 5 Intragenic
G>A South Asian Indian SLC24A5 rs1426654 A111T Skin color NA NA NA NA 15 Intragenic
G>A South Asian Indian MC1R rs885479 R163Q Hair, skin color NA NA NA NA 16 Intragenic
C>T South Asian Indian TYRP1 rs2733832 NA Skin color NA NA NA NA 9 Downstream
43 Beleza et al. Plos Genetics 2013 A>G,T Admixed European African SLC24A5 rs1426654 NA Eye, skin color NA NA NA NA 15 Intragenic
A>C,G,T Admixed European African GRM5, TYR rs10831496 NA Eye, skin color NA NA NA NA 11 Intragenic
C>A,G,T Admixed European African APBA2 rs4424881 NA Eye, skin color NA NA NA NA 15 Intragenic
T>C Admixed European African SLC45A2 rs35395 NA Eye, skin color NA NA NA NA 5 Intragenic
G>A Admixed European African HERC2 rs12913832 NA Eye, skin color NA NA NA NA 15 Intragenic
A>C,G Admixed European African SLC24A5 rs2470102 NA Eye, skin color NA NA NA NA 15 Intragenic
44 Jacobs et al. Human Genetics 2013 G>T European Danish UGT1A8 rs6742078 NA Skin color NA NA NA NA 2 Intragenic
C > T European Danish IRF4 rs12203592 NA Skin color NA NA NA NA 6 Intragenic
G>A,C,T European Danish BNC2 rs10756819 NA Skin color NA NA NA NA 9 Intragenic
A>G European Danish GATA3 rs376397 NA Skin color NA NA NA NA 10 Intragenic
G > A European Danish TYR rs1393350 NA Skin color NA NA NA NA 11 Intragenic
A>G European Danish SLC24A4 rs17128291 NA Skin color NA NA NA NA 14 Intragenic
A>G,T European Danish OCA2 rs7495174 NA Skin color NA NA NA NA 15 Intragenic
G>A European Danish HERC2 rs12913832 NA Skin color NA NA NA NA 15 Intragenic
T>A,C European Danish SLC24A5 rs17426596 NA Skin color NA NA NA NA 15 Intragenic
C>T European Danish MC1R rs1805007 NA Skin color NA NA NA NA 16 Intragenic
A > G European Danish ASIP rs4911442 NA Skin color NA NA NA NA 20 Intragenic
45 Walsh et al. Forensic science international: Genetics 2013 G>A European European MC1R rs11547464 NA Eye, Hair color NA NA NA NA 16 Intragenic
G>A European European MC1R rs885479 NA Eye, Hair color NA NA NA NA 16 Intragenic
C>T European European MC1R rs1805008 NA Eye, Hair color NA NA NA NA 16 Intragenic
G>T European European MC1R rs1805005 NA Eye, Hair color NA NA NA NA 16 Intragenic
C>A European European MC1R rs1805006 NA Eye, Hair color NA NA NA NA 16 Intragenic
C>T European European MC1R rs1805007 NA Eye, Hair color NA NA NA NA 16 Intragenic
G>A,C European European MC1R rs1805009 NA Eye, Hair color NA NA NA NA 16 Intragenic
G>A European European MC1R rs2228479 NA Eye, Hair color NA NA NA NA 16 Intragenic
T>C European European MC1R rs1110400 NA Eye, Hair color NA NA NA NA 16 Intragenic
C>A European European SLC45A2 rs28777 NA Eye, Hair color NA NA NA NA 5 Intragenic
G>C European European SLC45A2 rs16891982 NA Eye, Hair color NA NA NA NA 5 Intragenic
T>A,C,G European European KITLG rs12821256 NA Eye, Hair color NA NA NA NA 12 NA
C>A,G,T European European EXOC2 rs4959270 NA Eye, Hair color NA NA NA NA 6 NA
C > T European European IRF4 rs12203592 NA Eye, Hair color NA NA NA NA 6 Intragenic
C > A European European TYR rs1042602 NA Eye, Hair color NA NA NA NA 11 Intragenic
C>T European European OCA2 rs1800407 R419Q Eye, Hair color NA NA NA NA 15 Intragenic
G>A,C,T European European SLC24A4 rs2402130 NA Eye, Hair color NA NA NA NA 14 Intragenic
G>A European European HERC2 rs12913832 NA Eye, Hair color NA NA NA NA 15 Intragenic
G>A,C European European ASIP rs2378249 NA Eye, Hair color NA NA NA NA 20 Intragenic
G > T European European SLC24A4 rs12896399 NA Eye, Hair color NA NA NA NA 14 Intragenic
G > A European European TYR rs1393350 NA Eye, Hair color NA NA NA NA 11 Intragenic
C > A European European TYRP1 rs683 NA Eye, Hair color NA NA NA NA 9 Intragenic

Ideated by Genophen Lab,   BHU    &   Bioclues