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
6 Fargnoli et al. Human Mutation 2003 G>A Caucasian Caucasian MC1R rs779504604 Cys35Tyr Hair, Skin color NA NA NA NA 16 Exonic NA
Human Mutation G>A Caucasian Caucasian MC1R rs200050206 Val38Met Hair, Skin color NA NA NA NA 16 Exonic NA
Human Mutation C>G Caucasian Caucasian MC1R NA Leu44Val Hair, Skin color NA NA NA NA 16 NA NA
Human Mutation G>T Caucasian Caucasian MC1R rs1805005 Val60Leu Hair, Skin color NA NA NA NA 16 Exonic NA
Human Mutation G>A Caucasian Caucasian MC1R rs34090186 Arg67Gln Hair, Skin color NA NA NA NA 16 Exonic NA
Human Mutation C>A Caucasian Caucasian MC1R rs1805006 Asp84Glu Hair, Skin color NA NA NA NA 16 Exonic NA
Human Mutation G>A Caucasian Caucasian MC1R rs2228479 Val92Met Hair, Skin color NA NA NA NA 16 Exonic NA
Human Mutation C>T Caucasian Caucasian MC1R rs34158934 Thr95Met Hair, Skin color NA NA NA NA 16 Exonic NA
Human Mutation T>C Caucasian Caucasian MC1R rs33932559 Ile120Thr Hair, Skin color NA NA NA NA 16 Exonic NA
Human Mutation G>A Caucasian Caucasian MC1R rs201192930 Val122Met Hair, Skin color NA NA NA NA 16 Exonic NA
Human Mutation G>A Caucasian Caucasian MC1R rs11547464 Arg142His Hair, Skin color NA NA NA NA 16 Exonic NA
Human Mutation C>T Caucasian Caucasian MC1R rs1805007 Arg151Cys Hair, Skin color NA NA NA NA 16 Exonic NA
Human Mutation T>C Caucasian Caucasian MC1R rs1110400 Ile155Thr Hair, Skin color NA NA NA NA 16 Exonic NA
Human Mutation C>T Caucasian Caucasian MC1R rs1805008 Arg160Trp Hair, Skin color NA NA NA NA 16 Exonic NA
Human Mutation G>A Caucasian Caucasian MC1R rs885479 Arg163Gln Hair, Skin color NA NA NA NA 16 Exonic NA
Human Mutation C>T Caucasian Caucasian MC1R rs200000734 Arg213Trp Hair, Skin color NA NA NA NA 16 Exonic NA
Human Mutation G>A Caucasian Caucasian MC1R NA Gln233Gln Hair, Skin color NA NA NA NA 16 NA NA
Human Mutation A>G Caucasian Caucasian MC1R rs201171524 Lys278Glu Hair, Skin color NA NA NA NA 16 Exonic NA
Human Mutation C>A Caucasian Caucasian MC1R rs202197434 Asn279Lys Hair, Skin color NA NA NA NA 16 Exonic NA
Human Mutation A>G Caucasian Caucasian MC1R NA Thr314Thr Hair, Skin color NA NA NA NA 16 NA NA
7 Lamason et al. Science 2005 A>G Admixed Admixed SLC24A5 rs1426654 Ala111Thr Skin color NA NA NA 3.00E-08 15 Exonic NA
Science A>G Admixed Admixed SLC24A5 rs1426654 Ala111Thr Skin color NA NA NA 2.00E-04 15 Exonic NA
8 Bonilla et al. Human Genetics 2005 A>G Admixed African-American ASIP rs6058017 NA Skin color NA NA NA NA 20 Intronic NA
9 Graf et al. Human Mutation 2005 C>G Caucasian, Asians, African-Americans, Australian Caucasian, Asians, African-Americans, Australian MATP NA Phe374Leu Skin, Hair, Eye color NA NA NA NA 5 NA NA
Human Mutation C>G Caucasian, Asians, African-Americans, Australian Caucasian, Asians, African-Americans, Australian MATP NA Glu272Lys Skin, Hair, Eye color NA NA NA NA 5 NA NA
10 Sturm et al. Trends in Genetics 2006 C>A European European TYR rs1042602 Ser192Tyr Albino mouse coat colour NA NA NA NA 11 Exonic NA
Trends in Genetics G>A European European TYR rs1800422 Arg402Gln NA NA NA NA NA 11 Exonic Missence
Trends in Genetics G>A African African OCA2 rs1800401 Arg305Trp Brown coat color NA NA NA NA 15 Exonic Missence
Trends in Genetics C>T European European OCA2 rs1800407 Arg419Gln Underwhite coat color NA NA NA NA 15 Exonic Missence
Trends in Genetics T>C Asian Japanese, Chinese OCA2 rs1800414 His591Arg Yellow coat color NA NA NA NA 15 Exonic Missence
Trends in Genetics G>A Asian Japanese, Chinese SLC45A2 rs26722 Glu272Lys Slaty coat color NA NA NA NA 5 Intronic NA
Trends in Genetics G>C European European SLC45A2 rs16891982 Leu374Phe Silver coat color NA NA NA NA 5 Exonic Missence
Trends in Genetics G>A European European SLC24A5 rs1426654 Ala111Thr NA NA NA NA NA 15 Exonic NA

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