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 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
111 Kidd et al. Scientific Reports 2020 C>T European European OCA2 rs1800407  NA Eye colour NA NA NA NA 15 Intragenic NA
112 Saurez et al. Scientific Reports 2021 G>A African, European, North African, Central-South Asian, East Asian, American, Oceanian African, European, North African, Central-South Asian, East Asian, American, Oceanian HERC2  rs12913832 NA Eye colour NA NA NA NA 15 Intragenic NA
113 Farre et al. Genes 2023 C>A,G European Southern Europe  SLC45A2 rs16891982 NA Hair, Eye, Skin color NA NA NA NA 5 3 prime UTR NA
C>T European Southern Europe  IRF4  rs12203592 NA Hair, Eye, Skin color NA NA NA NA 6 Intragenic NA
G>A European Southern Europe  HERC2  rs12913832 NA Hair, Skin color NA NA NA NA 15 Intragenic NA
C>A,G,T European Southern Europe  MC1R  rs1805007 NA Hair color NA NA NA NA 16 Intragenic NA
114 Soejima et al. Human Mutation 2025 C>A South Asian Tamils, Sinhalese, Bangladeshi, Japanese TYR rs1042602 Ser192Tyr Skin color NA NA NA NA 11 Intragenic NA
A>C,G,T South Asian Tamils, Sinhalese, Bangladeshi, Japanese SLC24A5 rs1426654 Ala111Thr Skin color NA NA NA NA 15 Intragenic NA
C>A,G South Asian Tamils, Sinhalese, Bangladeshi, Japanese SLC45A2 rs16891982 Leu374Phe Skin color NA NA NA NA 5 3 prime UTR NA

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