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
71 Rawofi et al. PeerJ 2017 T>C Asian East Asian IGFBP2 rs2003589 NA Skin color NA NA NA NA 2 Intronic NA
PeerJ C>T Asian East Asian IGFBP2 rs853807 NA Skin color NA NA NA NA 5 Intronic NA
PeerJ T>G Asian East Asian RP11-134K13.4 rs57836066 NA Skin color NA NA NA NA 6 Intronic NA
PeerJ T>A Asian East Asian ZNF804B rs2373391 NA Skin color NA NA NA NA 7 Intronic NA
PeerJ T>C Asian East Asian ZNF804B rs7945369 NA Skin color NA NA NA NA 11 NA NA
PeerJ T>C Asian East Asian C1orf95 rs6664080 NA Eye color NA NA NA NA 1 Exonic NA
PeerJ A>G Asian East Asian TRANK1 rs4425211 NA Eye color NA NA NA NA 3 Intronic NA
PeerJ G>C Asian East Asian APBB2 rs125013704 NA Eye color NA NA NA NA 4 NA NA
PeerJ C>T Asian East Asian CTD-2199O4.1 rs26580845 NA Eye color NA NA NA NA 5 NA NA
PeerJ G>T Asian East Asian CTD-2199O4.1 rs1136330475 NA Eye color NA NA NA NA 5 NA NA
PeerJ C>T Asian East Asian LRRC16A rs6924266 NA Eye color NA NA NA NA 6 Intronic NA
PeerJ T>A Asian East Asian SCML4 rs9373973 NA Eye color NA NA NA NA 6 Intronic NA
PeerJ C>T Asian East Asian SCML4 rs145048184 NA Eye color NA NA NA NA 8 NA NA
PeerJ T>C Asian East Asian ARHGAP32 rs610106 NA Eye color NA NA NA NA 11 Intronic NA
PeerJ A>G Asian East Asian ARHGAP32 rs249625 NA Eye color NA NA NA NA 12 Intronic NA
PeerJ C>T Asian East Asian OCA2 rs76930569 NA Eye color NA NA NA NA 15 Intronic NA
PeerJ C>T Asian East Asian OCA2 rs7516199720 NA Eye color NA NA NA NA 15 NA NA
PeerJ C>T Asian East Asian OCA2 rs813106521 NA Eye color NA NA NA NA 15 NA NA
PeerJ A>G Asian East Asian ENPEP rs55821297 NA Eye color NA NA NA NA 4 Intronic NA
PeerJ C>T Asian East Asian ENPEP rs72763726 NA Eye color NA NA NA NA 4 NA NA
PeerJ C>G Asian East Asian CTC-507E12.1 rs330203 NA Eye color NA NA NA NA NA NA NA
PeerJ C>A Asian East Asian EYS rs9345521 NA Eye color NA NA NA NA 6 Intronic NA
PeerJ G>C Asian East Asian EYS rs78001527 NA Eye color NA NA NA NA 6 NA NA
PeerJ T>A Asian East Asian EYS rs6977845 NA Eye color NA NA NA NA 6 NA NA
PeerJ T>C Asian East Asian AFM rs12510870 NA Eye color NA NA NA NA 4 Intronic NA
PeerJ G>A Asian East Asian ENPEP rs1996603 NA Eye color NA NA NA NA 4 NA NA
PeerJ C>A Asian East Asian CSMD1 rs141034411 NA Eye color NA NA NA NA 8 Intronic NA
PeerJ T>C Asian East Asian HK1 rs2278745 NA Eye color NA NA NA NA 10 Intronic NA
PeerJ C>T Asian East Asian ENPEP rs243946 NA Eye color NA NA NA NA 4 NA NA
PeerJ G>A Asian East Asian CCDC26 rs16904127 NA Eye color NA NA NA NA 8 Intronic NA
PeerJ C>T Asian East Asian CCDC26 rs7914735 NA Eye color NA NA NA NA 8 NA NA
PeerJ G>C Asian East Asian CCDC26 rs11667379 NA Eye color NA NA NA NA 8 NA NA
72 Jones et al. Genetics 2017 T>A,C West African-European West African-European AHRR rs7736 NA Eye color NA NA NA NA 5 Intronic NA
Genetics G>A West African-European West African-European HERC2 rs12913832 NA Eye color NA NA NA NA 15 Intronic NA
Genetics A>G,T West African-European West African-European SLC24A5 rs1426654 NA Eye color NA NA NA NA 15 Exonic NA
Genetics T>C West African-European West African-European SLC45A2 rs35395 NA Skin color NA NA NA NA 5 Intronic NA
Genetics G>C West African-European West African-European DDB1 rs2513329 NA Skin color NA NA NA NA 11 Exonic Synonymous
Genetics A>C,G,T West African-European West African-European GRM5, TYR rs10831496 NA Skin color NA NA NA NA 11 Intronic NA
Genetics C>A,G,T West African-European West African-European APBA2 rs4424881 NA Skin color NA NA NA NA 15 Intronic NA
Genetics A>G,T West African-European West African-European SLC24A5 rs1426654 NA Skin color NA NA NA NA 15 Exonic NA
73 Deng et al. BioMed Central 2018 C>A,G,T European European APBA2 rs4424881 NA Skin color NA NA NA NA 15 Intronic NA
BioMed Central A>G European European ASIP rs6058017 NA Eye, Skin color NA NA NA NA 20 Intronic NA
BioMed Central G>A,C European European ASIP rs4911442 NA Eye, Skin color NA NA NA NA 20 Intronic NA
BioMed Central A>C,G,T European European GRM5, TYR rs10831469 NA Skin color NA NA NA NA 11 Intronic NA
BioMed Central C>T European European HERC2 rs79097182 NA Hair color NA NA NA NA 15 Intronic NA
BioMed Central C>T European European IRF4 rs12203592 NA Hair, Skin color NA NA NA NA 6 Intronic NA
BioMed Central G>A European European IRF4 rs1540771 NA Hair color NA NA NA NA 6 NA NA
BioMed Central C>A,G,T European, East Asian European, East Asian DCT rs1325611 NA Skin color NA NA NA NA 13 Intronic NA
BioMed Central T>A,C,G European, East Asian European, East Asian DCT rs1407995 NA Skin color NA NA NA NA 13 Intronic NA
BioMed Central T>C Asian East Asian DCT rs9516418 NA Skin color NA NA NA NA 13 Intronic NA
BioMed Central T>A,C,G Asian East Asian DCT rs3782974 NA Skin color NA NA NA NA 13 Intronic NA
BioMed Central A>G Asian East Asian DCT rs2031526 NA Skin color NA NA NA NA 13 Intronic NA
BioMed Central C>A,T European, East Asian European, East Asian KITLG rs1881227 NA Skin color NA NA NA NA 12 NA NA
BioMed Central A>G European, East Asian European, East Asian KITLG rs642742 NA Skin color NA NA NA NA 12 NA NA
BioMed Central T>A,C,G European, East Asian European, East Asian KITLG rs12821256 NA Hair color NA NA NA NA 12 NA NA
BioMed Central G>A Asian East Asian MC1R rs885479 NA Hair, Skin color NA NA NA NA 16 Exonic NA
BioMed Central G>T European European MC1R rs1805005 NA Hair, Skin color NA NA NA NA 16 Exonic NA
BioMed Central C>A European European MC1R rs1805006 NA Hair, Skin color NA NA NA NA 16 Exonic NA
BioMed Central C>T European European MC1R rs1805008 NA Hair, Skin color NA NA NA NA 16 Exonic NA
BioMed Central G>A,C European European MC1R rs1805009 NA Hair color NA NA NA NA 16 Exonic NA
BioMed Central G>A Asian East Asian MC1R rs2228479 NA Hair, Skin color NA NA NA NA 16 Exonic NA
BioMed Central T>A,C European European MC1R rs2353688 NA Hair color NA NA NA NA 16 NA NA
BioMed Central T>C European European MC1R rs146972365 NA Hair color NA NA NA NA 16 Intronic NA
BioMed Central T>C,G European European MC1R rs8063160 NA Hair color NA NA NA NA 16 Intronic NA
BioMed Central G>A European European MC1R rs11547464 NA Eye, Skin color NA NA NA NA 16 Exonic NA
BioMed Central T>C European European MC1R rs1110400 NA Hair, Skin color NA NA NA NA 16 Exonic NA
BioMed Central G>A European European OCA2 rs12913832 NA Eye, Skin color NA NA NA NA 15 Intronic NA
BioMed Central C>T Asian East Asian OCA2 rs1800404 NA Skin color NA NA NA NA 15 Exonic Synonymous
BioMed Central C>T European European OCA2 rs1800407 Arg419Gln Eye, Skin color NA NA NA NA 15 Exonic Missence
BioMed Central T>A,C Asian East Asian OCA2 rs1800414 His615Arg Eye, Skin color NA NA NA NA 15 Exonic Missence
BioMed Central G>A Asian East Asian OCA2 rs74653330 NA Skin color NA NA NA NA 15 Exonic Missence
BioMed Central C>T Asian East Asian OCA2 rs150335311 NA Skin color NA NA NA NA 15 Intronic NA
BioMed Central A>G European, East Asian European, East Asian OCA2 rs1448484 NA Skin color NA NA NA NA 15 Intronic NA
BioMed Central G>A European European OCA2 rs1667394 NA Skin color NA NA NA NA 15 Intronic NA
BioMed Central G>T European European SLC24A4 rs12896399 NA Skin, Hair, Eye color NA NA NA NA 14 Intronic NA
BioMed Central A>G,T European European SLC24A4 rs8014907 NA Hair color NA NA NA NA 14 Intronic NA
BioMed Central A>G,T European European SLC24A5 rs1426654 NA Skin color NA NA NA NA 15 Exonic NA
BioMed Central A>C,G European European SLC24A5 rs2470102 NA Eye, Skin color NA NA NA NA 15 Intronic NA
BioMed Central C>G European European SLC45A2 rs16891982 NA Skin color NA NA NA NA 5 Exonic Missence
BioMed Central G>A European European SLC45A2 rs26722 NA Skin color NA NA NA NA 5 Intronic NA
BioMed Central G>C Asian East Asian SLC45A2 rs11568737 NA Skin color NA NA NA NA 5 Exonic Missence
BioMed Central T>C European European SLC45A2 rs35395 NA Skin color NA NA NA NA 5 Intronic NA
BioMed Central C>T European European TPCN2 rs72930659 NA Hair color NA NA NA NA 11 NA NA
BioMed Central A>T European European TPCN2 rs35264875 NA Skin color NA NA NA NA 11 Exonic Missence
BioMed Central G>A European European TPCN2 rs3829241 NA Skin color NA NA NA NA 11 Exonic Missence
BioMed Central C>A European European TYR rs1042602 NA Skin color NA NA NA NA 11 Exonic NA
BioMed Central G>A European European TYR rs1393350 NA Skin color NA NA NA NA 11 Intronic NA
BioMed Central A>C,G,T European European TYR rs10831469 NA Skin color NA NA NA NA 11 Intronic NA
BioMed Central G>A European European TYR rs1126809 Arg402Gln Skin color NA NA NA NA 11 Exonic Missence
BioMed Central G>A European European TYR rs1800422 NA Skin color NA NA NA NA 11 Exonic Missence
BioMed Central G>T Asian East Asian TYR rs13312741 NA Skin color NA NA NA NA 11 Exonic Missence
BioMed Central C>A,G,T European European TYRP1 rs2733832 NA Eye, Skin color NA NA NA NA 9 Exonic NA
BioMed Central A>G European European TYRP1 rs2733831 NA Skin color NA NA NA NA 9 Intronic NA
BioMed Central A>T European European TYRP1 rs2762464 NA Skin color NA NA NA NA 9 Intronic NA
BioMed Central C>T European European TYRP1 rs1408799 NA Skin color NA NA NA NA 9 NA NA
BioMed Central G>A,C,T Asian East Asian TYRP1 rs10809814 NA Eye, Skin color NA NA NA NA 9 NA NA
74 Quillen et al. American Journal of Physical Anthropology 2018 G>A,C South Asian South Asian MC1R rs2228479 Val92Met Skin color NA NA NA NA 16 Exonic Missence
American Journal of Physical Anthropology G>A South Asian South Asian MC1R rs885479 Arg163Gln Skin color NA NA NA NA 16 Exonic Missence
American Journal of Physical Anthropology A>G South Asian South Asian ASIP rs6058017 NA Skin color NA NA NA NA 20 Intronic NA
American Journal of Physical Anthropology C>A,T South Asian South Asian OCA2 rs1800404 NA Skin color NA NA NA NA 15 Exonic Synonymous
American Journal of Physical Anthropology C>A,G European European SLC45A2 rs16891982 Phe374Leu Skin color NA NA NA NA 5 Exonic Missence
American Journal of Physical Anthropology C>T European European SLC45A2 rs26722 Glu272Lys Skin color NA NA NA NA 5 Intronic NA
American Journal of Physical Anthropology G>A Asian East Asian OCA2 rs74653330 Ala481Thr Skin color NA NA NA NA 15 Exonic Missence
American Journal of Physical Anthropology C>A,G,T African African MFSD12 rs56203814 NA Skin color NA NA NA NA 19 Exonic Synonymous
American Journal of Physical Anthropology C>G,T African African MFSD12 rs10424065 NA Skin color NA NA NA NA 19 Intronic NA
American Journal of Physical Anthropology T>A,C,G African African TMEM138 rs7948623 NA Skin color NA NA NA NA 11 Intronic NA
American Journal of Physical Anthropology T>C Others Africans, Non Africans DDB1 rs11230664 NA Skin color NA NA NA NA 11 Intronic NA
75 Lasisi et al. Genome Biology 2018 C>A,T African African OCA2 rs1800404 NA Skin color NA NA NA NA 15 Exonic Synonymous

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