HPDB: Human Pigmentation Database
HPDB: Pigmentation Database 
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RSID GenBank HPDB Data PAGE 20


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
101 Salvo et al. Forensic Science International: Genetics 2022 C>A,G European Norway SLC45A2 rs28777 NA Eye, Hair color NA NA NA NA 5 Intragenic
C>G,T European Norway IRF4 rs12203592 NA Eye, Hair color NA NA NA NA 6 Intragenic
C>A,G,T European Norway IRF4 rs4959270 NA Eye, Hair color NA NA NA NA 6 NA
C>A European Norway TYRP1 rs683 NA Eye, Hair color NA NA NA NA 9 Intragenic
A>C European Norway TYR rs1042602 NA Eye, Hair color NA NA NA NA 11 Intragenic
G>A European Norway TYR rs1393350 NA Eye, Hair color NA NA NA NA 11 Intragenic
T>A,C,G European Norway TYR rs12821256 NA Eye, Hair color NA NA NA NA 11 NA
G>A,T European Norway LOC105370627 rs12896399 NA Eye, Hair color NA NA NA NA 14 Intragenic
G>A,C,T European Norway SLC24A4 rs2402130 NA Eye, Hair color NA NA NA NA 14 Intragenic
C>T European Norway OCA2 rs1800407 R419Q Eye, Hair color NA NA NA NA 15 Intragenic
A>-,AA European Norway MC1R rs312262906 NA Eye, Hair color NA NA NA NA 16 Intragenic
G>T European Norway MC1R rs1805005 NA Eye, Hair color NA NA NA NA 16 Intragenic
C>A European Norway MC1R rs1805006 NA Eye, Hair color NA NA NA NA 16 Intragenic
G > A,C European Norway MC1R rs2228479 NA Eye, Hair color NA NA NA NA 16 Intragenic
G>A European Norway MC1R rs11547464 NA Eye, Hair color NA NA NA NA 16 Intragenic
C>A,G,T European Norway MC1R rs1805007 NA Eye, Hair color NA NA NA NA 16 Intragenic
C>A European Norway MC1R rs201326893 NA Eye, Hair color NA NA NA NA 16 Intragenic
T>C European Norway MC1R rs1110400 NA Eye, Hair color NA NA NA NA 16 Intragenic
C>T European Norway MC1R rs1805008 NA Eye, Hair color NA NA NA NA 16 Intragenic
G>A European Norway MC1R rs885479 NA Eye, Hair color NA NA NA NA 16 Intragenic
G>A,C European Norway MC1R rs1805009 NA Eye, Hair color NA NA NA NA 16 Intragenic
G>A,C European Norway PIGU rs2378249 NA Eye, Hair color NA NA NA NA 20 Intragenic
C>A,G European Norway SLC45A2 rs16891982 NA Eye, Hair color NA NA NA NA 5 Intragenic
A>C, G European Norway HERC2 rs12913832 NA Eye, Hair color NA NA NA NA 15 Intragenic
102 Kim et al. Nature Communication 2024 A>G,T Asian East Asian GLIS1 rs7520584 NA Skin color NA NA NA NA 1 Intragenic
T>C,G Asian East Asian GLIS1 rs702488 NA Skin color NA NA NA NA 1 Intragenic
G>A,C Asian East Asian SLC45A3 rs7529037 NA Skin color NA NA NA NA 1 Intragenic
A>G Asian East Asian MIR548F3 rs75998173 NA Skin color NA NA NA NA 5 NA
A>C,G,T Asian East Asian MRPS22 rs9853827 NA Skin color NA NA NA NA 3 Intragenic
A>G,T Asian East Asian LINC01179 rs7667134 NA Skin color NA NA NA NA 4 Intragenic
A>T Asian East Asian BCKDHB rs9361843 NA Skin color NA NA NA NA 6 NA
C>A,G,T Asian East Asian LOC105375414 rs6977057 NA Skin color NA NA NA NA 7 NA
C>G,T Asian East Asian LDB3 rs3740342 NA Skin color NA NA NA NA 10 Intragenic
T>A,C,G Asian East Asian CTR9 rs2957668 NA Skin color NA NA NA NA 11 Intragenic
T>A,C,G Asian East Asian GAB2, NA2 rs10899491 NA Skin color NA NA NA NA 11 Intragenic
A>G,T Asian East Asian BCO1 rs9924126 NA Skin color NA NA NA NA 16 Intragenic
103 Brancato et al. International J of molecular science 2024 A>C, G NA NA HERC2 rs12913832 NA Eye color NA NA NA NA 15 Intragenic
104 Pu et al. Journal of genetics & genomics 2024 C>T,A Asian Han Chinese PAH rs10778203 NA Skin color NA NA NA NA 12 Intragenic
105 Meyer et al. Genes 2021 A>C, G European Scandinavian HERC2 rs12913832 NA Eye color NA NA NA NA 15 Intragenic
C>T European Scandinavian IRF4 rs1050976 NA Eye color NA NA NA NA 6 Intragenic
NA European Scandinavian IRF4 rs10530949 NA Eye color NA NA NA NA 6 Intragenic
G>C European Scandinavian IRF4 rs12211228 NA Eye color NA NA NA NA 6 Intragenic
C>A,T European Scandinavian IRF4 rs9378807 NA Eye color NA NA NA NA 6 NA
T>A European Scandinavian TYR rs11018509 NA Eye color NA NA NA NA 11 NA
G>A European Scandinavian TYR rs1126809 R402Q Eye color NA NA NA NA 11 Intragenic
G>A European Scandinavian TYR rs1393350 NA Eye color NA NA NA NA 11 Intragenic
T>C European Scandinavian TYR rs2047512 NA Eye color NA NA NA NA 11 Intragenic
T>C,A European Scandinavian TYR rs34749698 NA Eye color NA NA NA NA 11 Upstream
A>C,G,T European Scandinavian TYR rs7120151 NA Eye color NA NA NA NA 11 Intragenic
T>C,A European Scandinavian TYR rs9919559 NA Eye color NA NA NA NA 11 Intragenic
G>A European Scandinavian SLC24A4 rs10131374 NA Eye color NA NA NA NA 14 Intragenic
C>A,G European Scandinavian SLC24A4 rs12590749 NA Eye color NA NA NA NA 14 Intragenic
C>T European Scandinavian SLC24A4 rs12880508 NA Eye color NA NA NA NA 14 Intragenic
T>C,G European Scandinavian SLC24A4 rs12894551 NA Eye color NA NA NA NA 14 Intragenic
A>G European Scandinavian SLC24A4 rs17128288 NA Eye color NA NA NA NA 14 Intragenic
C>T European Scandinavian SLC24A4 rs17128324 NA Eye color NA NA NA NA 14 Intragenic
NA European Scandinavian SLC24A4 rs34755843 NA Eye color NA NA NA NA 14 Intragenic
G>A,T European Scandinavian SLC24A4 rs35617057 NA Eye color NA NA NA NA 14 Intragenic
C>A,G,T European Scandinavian SLC24A4 rs4904887 NA Eye color NA NA NA NA 14 Intragenic
G>C European Scandinavian SLC24A4 rs4904891 NA Eye color NA NA NA NA 14 Intragenic
C>T European Scandinavian SLC24A4 rs4904897 NA Eye color NA NA NA NA 14 Intragenic
A>C,G,T European Scandinavian SLC24A4 rs4904927 NA Eye color NA NA NA NA 14 Intragenic
T>C,A,G European Scandinavian SLC24A4 rs59977926 NA Eye color NA NA NA NA 14 Intragenic
C>T European Scandinavian SLC24A4 rs7144273 P319P Eye color NA NA NA NA 14 Intragenic
G>A European Scandinavian SLC24A4 rs7152962 NA Eye color NA NA NA NA 14 Intragenic
G>A,C European Scandinavian SLC24A4 rs7401792 NA Eye color NA NA NA NA 14 Intragenic
G>A,T European Scandinavian SLC24A4 rs12896399 NA Eye color NA NA NA NA 14 Intragenic
T>C,A European Scandinavian TYRP1 rs10491745 NA Eye color NA NA NA NA 9 NA
T>C European Scandinavian TYRP1 rs1408799 NA Eye color NA NA NA NA 9 NA
A>-,AA,AAA European Scandinavian TYRP1 rs201447946 NA Eye color NA NA NA NA 9 Intragenic
A>G,T European Scandinavian TYRP1 rs62538950 NA Eye color NA NA NA NA 9 NA
T>C European Scandinavian TYRP1 rs62538956 NA Eye color NA NA NA NA 9 NA
C>A,T European Scandinavian TYRP1 rs74606098 NA Eye color NA NA NA NA 9 Intragenic
G>A European Scandinavian TYRP1 rs79586719 NA Eye color NA NA NA NA 9 NA
C>T European Scandinavian OCA2 rs1800407 R419Q Eye color NA NA NA NA 15 Intragenic
G>A European Scandinavian OCA2 rs1800401 R305W Eye color NA NA NA NA 15 Intragenic
T>A,C European Scandinavian OCA2 rs1800414 H591R Eye color NA NA NA NA 15 Intragenic
C>G,T European Scandinavian OCA2 rs62008729 NA Eye color NA NA NA NA 15 Intragenic
C>T European Scandinavian OCA2 rs121918166 V419I Eye color NA NA NA NA 15 Intragenic
A>G,T European Scandinavian OCA2 rs74653330 NA Eye color NA NA NA NA 15 Intragenic

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