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
11 John et al. The New York Academy of Sciences 2006 NA African Southern African MC1R NA Leu50Leu Hair, Skin color NA NA NA NA 16 NA NA
The New York Academy of Sciences NA African Southern African MC1R NA Ala103Ala Hair, Skin color NA NA NA NA 16 NA NA
The New York Academy of Sciences NA African Southern African MC1R NA Leu160Leu Hair, Skin color NA NA NA NA 16 NA NA
The New York Academy of Sciences NA African Southern African MC1R NA Ile168Ile Hair, Skin color NA NA NA NA 16 NA NA
The New York Academy of Sciences NA African Southern African MC1R NA Gln233Gln Hair, Skin color NA NA NA NA 16 NA NA
The New York Academy of Sciences NA African Southern African MC1R NA Val265Val Hair, Skin color NA NA NA NA 16 NA NA
The New York Academy of Sciences NA African Southern African MC1R NA Phe300Phe Hair, Skin color NA NA NA NA 16 NA NA
The New York Academy of Sciences NA African Southern African MC1R NA Thr314Thr Hair, Skin color NA NA NA NA 16 NA NA
The New York Academy of Sciences NA African Southern African MC1R NA Ser47Ile Hair, Skin color NA NA NA NA 16 NA NA
The New York Academy of Sciences NA African Southern African MC1R NA Leu99Ile Hair, Skin color NA NA NA NA 16 NA NA
The New York Academy of Sciences NA African Southern African MC1R rs32123566 Phe196Leu Hair, Skin color NA NA NA NA 16 NA NA
12 Sulem et al. Nature Genetics 2007 G>T European Icelandic, Dutch SLC24A4 rs12896399 NA Eye color 1.15 (0.95, 1.38) 1.29 (1.05, 1.59) 1.12 (0.91, 1.36) 3.20E-01 14 Intronic NA
Nature Genetics T>A,C,G European Icelandic, Dutch KITLG rs12821256 NA Eye color 1.13 (0.89, 1.42) 1.20 (0.92, 1.56) 0.96 (0.71, 1.30) 3.10E+00 12 NA NA
Nature Genetics G>A European Icelandic, Dutch IRF4 rs1540771 NA Eye color 1.11 (0.93, 1.34) 1.18 (0.95, 1.46 1.07 (0.87, 1.30) NA 6 NA NA
Nature Genetics G>A European Icelandic, Dutch TYR rs1393350 NA Eye color 1.20 (0.98, 1.47) 1.27 (1.01, 1.60) 1.18 (0.94, 1.48) 4.40E-02 11 Intronic NA
Nature Genetics C>A European Icelandic, Dutch TYR rs1042602 NA NA 1.01 (0.83, 1.24) 0.99 (0.78, 1.25) 0.97 (0.79, 1.19) NA 11 Intragenic NA
Nature Genetics G>A European Icelandic, Dutch OCA2 rs1667394 NA Eye color 29.43 (21.47, 40.35) 18.46 (12.93, 26.35) 15.34 (10.75, 21.88) 1.30E-24 15 Intronic NA
Nature Genetics A>G,T European Icelandic, Dutch OCA2 rs7495174 NA NA 6.90 (3.85, 12.39) 5.56 (3.02, 10.23) 4.87 (2.43, 9.74) 3.00E-24 15 Intronic NA
Nature Genetics C>T European Icelandic, Dutch MC1R rs1805008 NA Eye color 1.15 (0.87, 1.52) 1.02 (0.77, 1.35) 1.29 (0.88, 1.89) NA 16 Exonic NA
Nature Genetics C>T European Icelandic, Dutch MC1R rs1805007 NA NA 1.37 (0.98, 1.93) 0.95 (0.70, 1.28) 0.90 (0.60, 1.36) 4.40E-01 16 Exonic NA
13 Stokowski et al. The American Journal of Human Genetics 2007 A>G South Asian South Asian ASIP rs6058017 NA Skin color NA NA NA NA 20 Intronic NA
The American Journal of Human Genetics T>C South Asian South Asian DCT rs11551042 NA Skin color NA NA NA NA 13 3 prime UTR NA
The American Journal of Human Genetics T>A,G South Asian South Asian DCT rs1540979 NA Skin color NA NA NA NA 13 3 prime UTR NA
The American Journal of Human Genetics T>C,G South Asian South Asian DCT rs9516414 NA Skin color NA NA NA NA 13 Intronic NA
The American Journal of Human Genetics A>T South Asian South Asian DCT rs9524491 NA Skin color NA NA NA NA 13 Intronic NA
The American Journal of Human Genetics A>G,T South Asian South Asian DCT rs2892680 NA Skin color NA NA NA NA 13 Intronic NA
The American Journal of Human Genetics T>A,C,G South Asian South Asian DCT rs1407995 NA Skin color NA NA NA NA 13 Intronic NA
The American Journal of Human Genetics A>G South Asian South Asian DCT rs2296498 NA Skin color NA NA NA NA 13 Intronic NA
The American Journal of Human Genetics G>C South Asian South Asian DCT rs12876569 NA Skin color NA NA NA NA 13 Intronic NA
The American Journal of Human Genetics C>T South Asian South Asian MC1R rs3212379 NA Skin color NA NA NA NA 16 Intronic NA
The American Journal of Human Genetics C>T South Asian South Asian MC1R rs3212359 NA Skin color NA NA NA NA 16 Intronic NA
The American Journal of Human Genetics C>T South Asian South Asian MC1R rs3212360 NA Skin color NA NA NA NA 16 Intronic NA
The American Journal of Human Genetics G>A,C,T South Asian South Asian MC1R rs3212361 NA Skin color NA NA NA NA 16 Intronic NA
The American Journal of Human Genetics G>A,C South Asian South Asian MC1R rs3212362 NA Skin color NA NA NA NA 16 Intronic NA
The American Journal of Human Genetics A>C,T South Asian South Asian MC1R rs3212363 NA Skin color NA NA NA NA 16 5 prime UTR NA
The American Journal of Human Genetics G>T South Asian South Asian MC1R rs1805005 NA Skin color NA NA NA NA 16 5 prime UTR NA
The American Journal of Human Genetics C>A South Asian South Asian MC1R rs1805006 NA Skin color NA NA NA NA 16 Exonic NA
The American Journal of Human Genetics G>A South Asian South Asian MC1R rs2228479 NA Skin color NA NA NA NA 16 Exonic NA
The American Journal of Human Genetics G>A,T South Asian South Asian MC1R rs2229617 NA Skin color NA NA NA NA 16 Exonic NA
The American Journal of Human Genetics G>A,T South Asian South Asian MC1R rs3212364 NA Skin color NA NA NA NA 16 Exonic Missence
The American Journal of Human Genetics C>T South Asian South Asian MC1R rs1805007 NA Skin color NA NA NA NA 16 Exonic Synonymous
The American Journal of Human Genetics T>C South Asian South Asian MC1R rs1110400 NA Skin color NA NA NA NA 16 Exonic NA
The American Journal of Human Genetics G>A,C South Asian South Asian MC1R rs3212365 NA Skin color NA NA NA NA 16 Exonic NA
The American Journal of Human Genetics C>T South Asian South Asian MC1R rs1805008 NA Skin color NA NA NA NA 16 Exonic Missence
The American Journal of Human Genetics G>A South Asian South Asian MC1R rs885479 NA Skin color NA NA NA NA 16 Exonic Missence
The American Journal of Human Genetics T>C,G South Asian South Asian MC1R rs3212366 NA Skin color NA NA NA NA 16 Exonic Missence
The American Journal of Human Genetics G>A,C South Asian South Asian MC1R rs1805009 NA Skin color NA NA NA NA 16 Exonic Missence
The American Journal of Human Genetics C>T South Asian South Asian MC1R rs3212367 NA Skin color NA NA NA NA 16 Exonic Missence
The American Journal of Human Genetics A>G South Asian South Asian MC1R rs2228478 NA Skin color NA NA NA NA 16 Exonic Synonymous
The American Journal of Human Genetics G>A South Asian South Asian MC1R rs3212368 NA Skin color NA NA NA NA 16 Exonic Synonymous
The American Journal of Human Genetics A>G South Asian South Asian MC1R rs3212369 NA Skin color NA NA NA NA 16 3 prime UTR NA
The American Journal of Human Genetics C>A,G,T South Asian South Asian MC1R rs3212370 NA Skin color NA NA NA NA 16 3 prime UTR NA
The American Journal of Human Genetics A>G South Asian South Asian MC1R rs3212371 NA Skin color NA NA NA NA 16 3 prime UTR NA
The American Journal of Human Genetics C>T South Asian South Asian OCA2 rs12592271 NA Skin color NA NA NA NA 15 Intragenic NA
The American Journal of Human Genetics C>T South Asian South Asian OCA2 rs12592307 NA Skin color NA NA NA NA 15 Intragenic NA
The American Journal of Human Genetics C>G,T South Asian South Asian OCA2 rs17566952 NA Skin color NA NA NA NA 15 Intragenic NA
The American Journal of Human Genetics T>C South Asian South Asian OCA2 rs7170989 NA Skin color NA NA NA NA 15 Intragenic NA
The American Journal of Human Genetics G>A South Asian South Asian OCA2 rs11638265 NA Skin color NA NA NA NA 15 Intragenic NA
The American Journal of Human Genetics C>A,T South Asian South Asian OCA2 rs12439067 NA Skin color NA NA NA NA 15 Intragenic NA
The American Journal of Human Genetics C>G,T South Asian South Asian OCA2 rs69374775 NA Skin color NA NA NA NA 15 NA NA
The American Journal of Human Genetics G>A South Asian South Asian OCA2 rs1800411 NA Skin color NA NA NA NA 15 Intragenic NA
The American Journal of Human Genetics G>A South Asian South Asian OCA2 rs12910433 NA Skin color NA NA NA NA 15 Intragenic NA
The American Journal of Human Genetics G>A,C,T South Asian South Asian OCA2 rs1037208 NA Skin color NA NA NA NA 15 Intragenic NA
The American Journal of Human Genetics T>A,C,G South Asian South Asian OCA2 rs2290100 NA Skin color NA NA NA NA 15 Intragenic NA
The American Journal of Human Genetics G>A,T South Asian South Asian SILV rs1052165 NA Skin color NA NA NA NA 12 Intragenic NA
The American Journal of Human Genetics T>G South Asian South Asian SLC45A2 ss69374774 NA Skin color NA NA NA NA 5 3 prime UTR NA
The American Journal of Human Genetics C>A South Asian South Asian SLC45A2 rs250416 NA Skin color NA NA NA NA 5 Intragenic NA
The American Journal of Human Genetics A>C,G South Asian South Asian SLC45A2 rs2278007 NA Skin color NA NA NA NA 5 Intragenic NA
The American Journal of Human Genetics T>A,C,G South Asian South Asian SLC45A2 rs2287949 NA Skin color NA NA NA NA 5 Intragenic NA
The American Journal of Human Genetics G>A South Asian South Asian SLC45A2 rs26722 NA Skin color NA NA NA NA 5 Intragenic NA
The American Journal of Human Genetics T>G South Asian South Asian SLC45A2 rs183671 NA Skin color NA NA NA NA 5 Intragenic NA
The American Journal of Human Genetics C>A,T South Asian South Asian TYR rs4547091 NA Skin color NA NA NA NA 11 Intragenic NA
The American Journal of Human Genetics C>A,G,T South Asian South Asian TYR rs1799989 NA Skin color NA NA NA NA 11 Exonic NA
The American Journal of Human Genetics C>A South Asian South Asian TYR rs1042602 NA Skin color NA NA NA NA 11 Intragenic NA
The American Journal of Human Genetics G>A,C South Asian South Asian TYR rs12804012 NA Skin color NA NA NA NA 11 Intragenic NA
The American Journal of Human Genetics G>A,C South Asian South Asian TYR rs3793975 NA Skin color NA NA NA NA 11 Intragenic NA
The American Journal of Human Genetics A>G,T South Asian South Asian TYR rs1827430 NA Skin color NA NA NA NA 11 Intragenic NA
The American Journal of Human Genetics C>T South Asian South Asian TYR rs28521275 NA Skin color NA NA NA NA 11 Exonic NA
The American Journal of Human Genetics T>C South Asian South Asian TYRP1 rs2075508 NA Skin color NA NA NA NA 9 Intragenic NA
The American Journal of Human Genetics T>C,G South Asian South Asian TYRP1 rs2762462 NA Skin color NA NA NA NA 9 Exonic NA
The American Journal of Human Genetics C>A,G,T South Asian South Asian TYRP1 rs2733832 NA Skin color NA NA NA NA 9 Exonic NA
The American Journal of Human Genetics T>G South Asian South Asian TYRP1 rs2733833 NA Skin color NA NA NA NA 9 Exonic NA
The American Journal of Human Genetics C>G,T South Asian South Asian TYRP1 rs2733834 NA Skin color NA NA NA NA 9 Intragenic NA
The American Journal of Human Genetics A>T South Asian South Asian TYRP1 rs2762464 NA Skin color NA NA NA NA 9 Intragenic NA
The American Journal of Human Genetics T>C South Asian South Asian TYRP1 rs2382360 NA Skin color NA NA NA NA 9 Exonic NA
The American Journal of Human Genetics T>G South Asian South Asian TYRP1 rs69374773 NA Skin color NA NA NA NA 9 NA NA
The American Journal of Human Genetics A>T South Asian South Asian MYEF2 rs11070627 NA Skin color NA NA NA NA 15 Intragenic NA
The American Journal of Human Genetics C>T South Asian South Asian DUT rs11637235 NA Skin color NA NA NA NA 15 Intragenic NA
The American Journal of Human Genetics G>A,C South Asian South Asian SLC12A1 rs16960682 NA Skin color NA NA NA NA 15 Intragenic NA
The American Journal of Human Genetics G>T South Asian South Asian SLC12A1 rs2413890 NA Skin color NA NA NA NA 15 Intragenic NA
The American Journal of Human Genetics G>C South Asian South Asian SLC45A2 rs16891982 NA Skin color NA NA NA NA 5 Intragenic NA
The American Journal of Human Genetics C>G,T South Asian South Asian ATP8B4 rs7170781 NA Skin color NA NA NA NA 15 Intragenic NA
The American Journal of Human Genetics G>A South Asian South Asian SHC4 rs4774527 NA Skin color NA NA NA NA 15 Intragenic NA
The American Journal of Human Genetics G>A South Asian South Asian SLC12A1 rs1531916 NA Skin color NA NA NA NA 15 Intragenic NA
The American Journal of Human Genetics C>T South Asian South Asian TYR rs12295166 NA Skin color NA NA NA NA 11 Intragenic NA
The American Journal of Human Genetics G>A,C South Asian South Asian SLC12A1 rs1843144 NA Skin color NA NA NA NA 15 Intragenic NA
The American Journal of Human Genetics G>A South Asian South Asian SHC4 rs11854994 NA Skin color NA NA NA NA 15 Intragenic NA
The American Journal of Human Genetics A>G,T South Asian South Asian CEP152 rs16960843 NA Skin color NA NA NA NA 15 Intragenic NA
14 Graf et al. Human Mutation 2007 G>A Caucasian, Asian, African-American, Australian, Spanish Caucasian, Asian, African-American, Australian, Spanish MATP rs6867641 NA Skin color NA NA NA NA 5 Exonic NA
15 Lao et al. Annals of Human Genetics 2007 T>A,C,G European European DCT rs3782974 NA Skin color NA NA NA NA 13 Intronic NA
Annals of Human Genetics T>A,C European European OCA2 rs1800414 His591Arg Skin color NA NA NA NA 15 Exonic Missence
Annals of Human Genetics A>G European European OCA2 rs1448484 NA Skin color NA NA NA NA 15 Intronic NA
Annals of Human Genetics A>T European European TYRP1 rs2762464 NA Skin color NA NA NA NA 9 Intronic NA
Annals of Human Genetics C>A,G European European SLC45A2 rs16891982 NA Skin color NA NA NA NA 5 Exonic Missence

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