HPDB: Human Pigmentation Database
HPDB: Pigmentation Database 
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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
11 John et al. Annalas of the Newyork academy of science 2006 NA African Southern African MC1R NA L50L Hair, skin color NA NA NA NA 16 NA
NA African Southern African MC1R NA A103A Hair, skin color NA NA NA NA 16 NA
NA African Southern African MC1R NA L160L Hair, skin color NA NA NA NA 16 NA
NA African Southern African MC1R NA I168I Hair, skin color NA NA NA NA 16 NA
NA African Southern African MC1R NA Q233Q Hair, skin color NA NA NA NA 16 NA
NA African Southern African MC1R NA V265V Hair, skin color NA NA NA NA 16 NA
NA African Southern African MC1R NA F300F Hair, skin color NA NA NA NA 16 NA
NA African Southern African MC1R NA T314T Hair, skin color NA NA NA NA 16 NA
NA African Southern African MC1R NA S471 Hair, skin color NA NA NA NA 16 NA
NA African Southern African MC1R NA L99I Hair, skin color NA NA NA NA 16 NA
NA African Southern African MC1R rs32123566 F196L Hair, skin color NA NA NA NA 16 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) 0.032 14 Intragenic
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) 0.31 12 NA
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) 0.1 6 NA
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) 0.0044 11 Intragenic
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) 1 11 Intragenic
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) 1.3 X10–241 15 Intragenic
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) 3.0 X10–24 15 Intragenic
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) 0.2 16 Intragenic
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) 0.044 16 Intragenic
13 Stokowski et al. American Journal of Human Genetics 2007 A>G South Asian South Asian ASIP rs6058017 NA Skin color NA NA NA NA 20 Intragenic
T>C South Asian South Asian DCT rs11551042 NA Skin color NA NA NA NA 13 3 prime UTR
T>A,G South Asian South Asian DCT rs1540979 NA Skin color NA NA NA NA 13 3 prime UTR
T>C,G South Asian South Asian DCT rs9516414 NA Skin color NA NA NA NA 13 Intragenic
A>T South Asian South Asian DCT rs9524491 NA Skin color NA NA NA NA 13 Intragenic
A>G,T South Asian South Asian DCT rs2892680 NA Skin color NA NA NA NA 13 Intragenic
T>A,C,G South Asian South Asian DCT rs1407995 NA Skin color NA NA NA NA 13 Intragenic
A>G South Asian South Asian DCT rs2296498 NA Skin color NA NA NA NA 13 Intragenic
G>C South Asian South Asian DCT rs12876569 NA Skin color NA NA NA NA 13 Intragenic
C>T South Asian South Asian MC1R rs3212379 NA Skin color NA NA NA NA 16 Intragenic
C>T South Asian South Asian MC1R rs3212359 NA Skin color NA NA NA NA 16 Intragenic
C>T South Asian South Asian MC1R rs3212360 NA Skin color NA NA NA NA 16 Intragenic
G>A,C,T South Asian South Asian MC1R rs3212361 NA Skin color NA NA NA NA 16 Intragenic
G>A,C South Asian South Asian MC1R rs3212362 NA Skin color NA NA NA NA 16 Intragenic
A>C,T South Asian South Asian MC1R rs3212363 NA Skin color NA NA NA NA 16 5 prime UTR
G>T South Asian South Asian MC1R rs1805005 NA Skin color NA NA NA NA 16 Intragenic
C>A South Asian South Asian MC1R rs1805006 NA Skin color NA NA NA NA 16 Intragenic
G>A South Asian South Asian MC1R rs2228479 NA Skin color NA NA NA NA 16 Intragenic
G>A,T South Asian South Asian MC1R rs2229617 NA Skin color NA NA NA NA 16 Intragenic
G>A,T South Asian South Asian MC1R rs3212364 NA Skin color NA NA NA NA 16 Intragenic
C>T South Asian South Asian MC1R rs1805007 NA Skin color NA NA NA NA 16 Intragenic
T>C South Asian South Asian MC1R rs1110400 NA Skin color NA NA NA NA 16 Intragenic
G>A,C South Asian South Asian MC1R rs3212365 NA Skin color NA NA NA NA 16 Intragenic
C>T South Asian South Asian MC1R rs1805008 NA Skin color NA NA NA NA 16 Intragenic
G>A South Asian South Asian MC1R rs885479 NA Skin color NA NA NA NA 16 Intragenic
T>C,G South Asian South Asian MC1R rs3212366 NA Skin color NA NA NA NA 16 Intragenic
G>A,C South Asian South Asian MC1R rs1805009 NA Skin color NA NA NA NA 16 Intragenic
C>T South Asian South Asian MC1R rs3212367 NA Skin color NA NA NA NA 16 Intragenic
A>G South Asian South Asian MC1R rs2228478 NA Skin color NA NA NA NA 16 Intragenic
G>A South Asian South Asian MC1R rs3212368 NA Skin color NA NA NA NA 16 3 prime UTR
A>G South Asian South Asian MC1R rs3212369 NA Skin color NA NA NA NA 16 3 prime UTR
C>A,G,T South Asian South Asian MC1R rs3212370 NA Skin color NA NA NA NA 16 3 prime UTR
A>G South Asian South Asian MC1R rs3212371 NA Skin color NA NA NA NA 16 3 prime UTR
C>T South Asian South Asian OCA2 rs12592271 NA Skin color NA NA NA NA 15 Intragenic
C>T South Asian South Asian OCA2 rs12592307 NA Skin color NA NA NA NA 15 Intragenic
C>G,T South Asian South Asian OCA2 rs17566952 NA Skin color NA NA NA NA 15 Intragenic
T>C South Asian South Asian OCA2 rs7170989 NA Skin color NA NA NA NA 15 Intragenic
G>A South Asian South Asian OCA2 rs11638265 NA Skin color NA NA NA NA 15 Intragenic
C>A,T South Asian South Asian OCA2 rs12439067 NA Skin color NA NA NA NA 15 Intragenic
C>G,T South Asian South Asian OCA2 rs69374775 NA Skin color NA NA NA NA 15 NA
G>A South Asian South Asian OCA2 rs1800411 NA Skin color NA NA NA NA 15 Intragenic
G>A South Asian South Asian OCA2 rs12910433 NA Skin color NA NA NA NA 15 Intragenic
G>A,C,T South Asian South Asian OCA2 rs1037208 NA Skin color NA NA NA NA 15 Intragenic
T>A,C,G South Asian South Asian OCA2 rs2290100 NA Skin color NA NA NA NA 15 Intragenic
G>A,T South Asian South Asian SILV rs1052165 NA Skin color NA NA NA NA 12 Intragenic
T>G South Asian South Asian SLC45A2 ss69374774 NA Skin color NA NA NA NA 5 3 prime UTR
C>A South Asian South Asian SLC45A2 rs250416 NA Skin color NA NA NA NA 5 Intragenic
A>C,G South Asian South Asian SLC45A2 rs2278007 NA Skin color NA NA NA NA 5 Intragenic
T>A,C,G South Asian South Asian SLC45A2 rs2287949 NA Skin color NA NA NA NA 5 Intragenic
G>A South Asian South Asian SLC45A2 rs26722 NA Skin color NA NA NA NA 5 Intragenic
T > G South Asian South Asian SLC45A2 rs183671 NA Skin color NA NA NA NA 5 Intragenic
C>A,T South Asian South Asian TYR rs4547091 NA Skin color NA NA NA NA 11 Intragenic
C>A,G,T South Asian South Asian TYR rs1799989 NA Skin color NA NA NA NA 11 Upstream
C > A South Asian South Asian TYR rs1042602 NA Skin color NA NA NA NA 11 Intragenic
G>A,C South Asian South Asian TYR rs12804012 NA Skin color NA NA NA NA 11 Intragenic
G>A,C South Asian South Asian TYR rs3793975 NA Skin color NA NA NA NA 11 Intragenic
A>G,T South Asian South Asian TYR rs1827430 NA Skin color NA NA NA NA 11 Intragenic
C>T South Asian South Asian TYR rs28521275 NA Skin color NA NA NA NA 11 Downstream
T>C South Asian South Asian TYRP1 rs2075508 NA Skin color NA NA NA NA 9 Intragenic
T>C,G South Asian South Asian TYRP1 rs2762462 NA Skin color NA NA NA NA 9 Downstream
C>A,G,T South Asian South Asian TYRP1 rs2733832 NA Skin color NA NA NA NA 9 Downstream
T>G South Asian South Asian TYRP1 rs2733833 NA Skin color NA NA NA NA 9 Downstream
C>G,T South Asian South Asian TYRP1 rs2733834 NA Skin color NA NA NA NA 9 Intragenic
A>T South Asian South Asian TYRP1 rs2762464 NA Skin color NA NA NA NA 9 Intragenic
T>C South Asian South Asian TYRP1 rs2382360 NA Skin color NA NA NA NA 9 Downstream
T>G South Asian South Asian TYRP1 rs69374773 NA Skin color NA NA NA NA 9 NA
A>T South Asian South Asian MYEF2 rs11070627 NA Skin color NA NA NA NA 15 Intragenic
C>T South Asian South Asian DUT rs11637235 NA Skin color NA NA NA NA 15 Intragenic
G>A,C South Asian South Asian SLC12A1 rs16960682 NA Skin color NA NA NA NA 15 Intragenic
G>T South Asian South Asian SLC12A1 rs2413890 NA Skin color NA NA NA NA 15 Intragenic
G>C South Asian South Asian SLC45A2 rs16891982 NA Skin color NA NA NA NA 5 Intragenic
C>G,T South Asian South Asian ATP8B4 rs7170781 NA Skin color NA NA NA NA 15 Intragenic
G>A South Asian South Asian SHC4 rs4774527 NA Skin color NA NA NA NA 15 Intragenic
G>A South Asian South Asian SLC12A1 rs1531916 NA Skin color NA NA NA NA 15 Intragenic
C>T South Asian South Asian TYR rs12295166 NA Skin color NA NA NA NA 11 Intragenic
G>A,C South Asian South Asian SLC12A1 rs1843144 NA Skin color NA NA NA NA 15 Intragenic
G>A South Asian South Asian SHC4 rs11854994 NA Skin color NA NA NA NA 15 Intragenic
A>G,T South Asian South Asian CEP152 rs16960843 NA Skin color NA NA NA NA 15 Intragenic
14 Graf et al. Human mutation 2007 G > A Admixed Caucasian, Asian, African-American, Australian , Spanish MATP rs6867641 NA Skin color NA NA NA NA 5 Downstream
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 Intragenic
T>A,C European European OCA2 rs1800414 H591R Skin color NA NA NA NA 15 Intragenic
A>G European European OCA2 rs1448484 NA Skin color NA NA NA NA 15 Intragenic
A>T European European TYRP1 rs2762464 NA Skin color NA NA NA NA 9 Intragenic
C>A,G European European SLC45A2 rs16891982 NA Skin color NA NA NA NA 5 Intragenic

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