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
91 Wang et al. BMC 2021 T>C Asian Chinese SLC45A2 rs11568737 NA Skin color NA NA NA NA 5 Exonic Missence
BMC C>A Asian Chinese SLC45A2 rs28777 NA Skin color NA NA NA 1.10E-01 5 Intronic NA
BMC T>G Asian Chinese SLC45A2 rs183671 NA Skin color NA NA NA 3.00E-03 5 Intronic NA
BMC C>A Asian Chinese TYR rs1042602 NA Skin color NA NA NA 2.00E-03 11 Exonic NA
BMC G>A Asian Chinese TYR rs1393350 NA Skin color NA NA NA NA 11 Intronic NA
BMC G>A Asian Chinese TYR rs1126809 Arg402Gln Skin color NA NA NA 1E-330 11 Exonic Missence
92 Hasan et al. Scientific Journal of Medical Research 2021 G>A Asian Iraq HERC2 rs12913832 NA Skin, Hair, Eye color NA NA NA 1.00E-02 15 Intronic NA
93 Chen et al. Forensic Science International: Genetics 2021 C>A,G European European SLC45A2 rs16891982 NA Skin, Hair, Eye color NA NA NA 1.44E-87 5 Exonic Missence
Forensic Science International: Genetics C>A,G European European SLC45A2 rs28777 NA Skin, Hair, Eye color NA NA NA 5.90E-69 5 Intronic NA
Forensic Science International: Genetics C>G,T European European IRF4 rs12203592 NA Skin, Hair, Eye color NA NA NA 8.48E-08 6 Intronic NA
Forensic Science International: Genetics C>A,G,T European European EXOC2 rs4959270 NA Skin, Hair, Eye color NA NA NA 1.16E-02 6 NA NA
Forensic Science International: Genetics C>A European European TYRP1 rs683 NA Skin, Hair, Eye color NA NA NA 1.53E-13 9 Intronic NA
Forensic Science International: Genetics G>A,C,T European European BNC2 rs10756819 NA Skin, Hair, Eye color NA NA NA 1.08E-02 9 Intronic NA
Forensic Science International: Genetics A>C European European TYR rs1042602 NA Skin, Hair, Eye color NA NA NA 6.27E-06 11 Exonic NA
Forensic Science International: Genetics G>A European European TYR rs1393350 NA Skin, Hair, Eye color NA NA NA 3.57E-02 11 Intronic NA
Forensic Science International: Genetics A>G European European TYR rs1126809 Arg402Gln Skin, Hair, Eye color NA NA NA 9.20E-03 11 Exonic Missence
Forensic Science International: Genetics T>A,C,G European European KITLG rs12821256 NA Skin, Hair, Eye color NA NA NA 1.54E-03 12 NA NA
Forensic Science International: Genetics G>A,T European European SLC24A4 rs12896399 NA Skin, Hair, Eye color NA NA NA 6.42E-04 14 Intronic NA
Forensic Science International: Genetics G>A,C,T European European SLC24A4 rs2402130 NA Skin, Hair, Eye color NA NA NA 5.90E-03 14 Intronic NA
Forensic Science International: Genetics A>G European European SLC24A4 rs17128291 NA Skin, Hair, Eye color NA NA NA 5.06E-02 14 Intronic NA
Forensic Science International: Genetics A>T European European OCA2 rs1545397 NA Skin, Hair, Eye color NA NA NA 3.81E-04 15 Intronic NA
Forensic Science International: Genetics T>A,C European European OCA2 rs1800414 His615Arg Skin, Hair, Eye color NA NA NA 6.73E-06 15 Exonic Missence
Forensic Science International: Genetics C>T European European OCA2 rs1800407 Arg419Gln Skin, Hair, Eye color NA NA NA 3.65E-04 15 Exonic Missence
Forensic Science International: Genetics G>A,C European European OCA2 rs12441727 NA Skin, Hair, Eye color NA NA NA 1.85E-03 15 Intronic NA
Forensic Science International: Genetics G>A,C,T European European OCA2 rs1470608 NA Skin, Hair, Eye color NA NA NA 2.28E-23 15 Intronic NA
Forensic Science International: Genetics C>T European European HERC2 rs1129038 NA Skin, Hair, Eye color NA NA NA 7.02E-46 15 3 prime UTR NA
Forensic Science International: Genetics G>A European European HERC2 rs12913832 NA Skin, Hair, Eye color NA NA NA NA 15 Intronic NA
Forensic Science International: Genetics A>G European European HERC2 rs2238289 NA Skin, Hair, Eye color NA NA NA 6.75E-24 15 Intronic NA
Forensic Science International: Genetics A>G European European HERC2 rs6497292 NA Skin, Hair, Eye color NA NA NA 1.81E-20 15 Intronic NA
Forensic Science International: Genetics C>A,T European European HERC2 rs1667394 NA Skin, Hair, Eye color NA NA NA 5.19E-35 15 Intronic NA
Forensic Science International: Genetics A>G,T European European SLC24A5 rs1426654 NA Skin, Hair, Eye color NA NA NA 1.82E-73 15 Exonic NA
Forensic Science International: Genetics T>A,C,G European European ANKRD11 rs3114908 NA Skin, Hair, Eye color NA NA NA 1.36E-01 16 Intronic NA
Forensic Science International: Genetics C>T European European MC1R rs3212355 NA Skin, Hair, Eye color NA NA NA 5.42E-01 16 Exonic Missence
Forensic Science International: Genetics NA European European MC1R rs312262906 NA Skin, Hair, Eye color NA NA NA 4.27E-02 16 Exonic NA
Forensic Science International: Genetics G>T European European MC1R rs1805005 NA Skin, Hair, Eye color NA NA NA 1.44E-01 16 Exonic NA
Forensic Science International: Genetics C>A European European MC1R rs1805006 NA Skin, Hair, Eye color NA NA NA 6.62E-01 16 Exonic NA
Forensic Science International: Genetics G>A,C European European MC1R rs2228479 NA Skin, Hair, Eye color NA NA NA 2.29E-02 16 Exonic NA
Forensic Science International: Genetics G>A European European MC1R rs11547464 NA Skin, Hair, Eye color NA NA NA 3.61E-01 16 Exonic NA
Forensic Science International: Genetics C>A,G,T European European MC1R rs1805007 NA Skin, Hair, Eye color NA NA NA 4.77E-06 16 Exonic NA
Forensic Science International: Genetics C>A European European MC1R rs201326893 NA Skin, Hair, Eye color NA NA NA 5.47E-03 16 Exonic NA
Forensic Science International: Genetics T>C European European MC1R rs1110400 NA Skin, Hair, Eye color NA NA NA 1.45E-01 16 Exonic NA
Forensic Science International: Genetics C>T European European MC1R rs1805008 NA Skin, Hair, Eye color NA NA NA 5.59E-05 16 Exonic Missence
Forensic Science International: Genetics G>A European European MC1R rs885479 NA Skin, Hair, Eye color NA NA NA 5.10E-05 16 Exonic Missence
Forensic Science International: Genetics G>A,C European European MC1R rs1805009 NA Skin, Hair, Eye color NA NA NA 7.76E-06 16 Exonic Missence
Forensic Science International: Genetics A>G European European DEF8 rs8051733 NA Skin, Hair, Eye color NA NA NA 1.82E-01 16 Intronic NA
Forensic Science International: Genetics A>G European European RALY rs6059655 NA Skin, Hair, Eye color NA NA NA 3.01E-04 20 Intronic NA
Forensic Science International: Genetics C>A,G European European ASIP rs6119471 NA Skin, Hair, Eye color NA NA NA 8.59E-31 20 Intronic NA
Forensic Science International: Genetics G>A,C European European ASIP rs2378249 NA Skin, Hair, Eye color NA NA NA 3.52E-01 20 Intronic NA
94 Batai et al. PLOS Genetics 2021 G>A North American North America SLC24A5 rs2675345 NA Skin color NA NA NA 8.40E-14 15 Intronic NA
PLOS Genetics C>T North American North America SLC24A5 rs11179301 NA Skin color NA NA NA NA 15 Intronic NA
PLOS Genetics C>T North American North America OCA2 rs1800404 NA Skin color NA NA NA 4.94E-08 15 Exonic Synonymous
PLOS Genetics A>G North American North America KLHL29 rs79952417 NA Skin color NA NA NA NA 2 Intronic NA
PLOS Genetics C>T North American North America GRXCR1 rs12644472 NA Skin color NA NA NA NA 4 NA NA
PLOS Genetics C>T North American North America GPM6A rs13111738 NA Skin color NA NA NA NA 4 NA NA
PLOS Genetics T>C North American North America ARRDC3 rs2561059 NA Skin color NA NA NA NA 5 NA NA
PLOS Genetics A>G North American North America KIF6 rs73424678 NA Skin color NA NA NA NA 6 Intronic NA
PLOS Genetics C>A North American North America QKI rs672706 NA Skin color NA NA NA NA 6 Intronic NA
PLOS Genetics C>A,T North American North America NPVF rs9648318 NA Skin color NA NA NA NA 7 NA NA
PLOS Genetics C>G,T North American North America INHBA rs116746926 NA Skin color NA NA NA NA 7 NA NA
PLOS Genetics A>G North American North America RET rs3004256 NA Skin color NA NA NA NA 10 NA NA
PLOS Genetics A>G North American North America TRHDE rs12370471 NA Skin color NA NA NA NA 12 Intronic NA
PLOS Genetics C>T North American North America TRHDE rs11179301 NA Skin color NA NA NA NA 12 Intronic NA
PLOS Genetics C>A North American North America TRHDE rs11179306 NA Skin color NA NA NA NA 12 Exonic NA
PLOS Genetics A>G North American North America SPRY2 rs74377764 NA Skin color NA NA NA NA 13 NA NA
PLOS Genetics C>T North American North America FOXF1 rs80009450 NA Skin color NA NA NA NA 16 Intronic NA
PLOS Genetics G>A North American North America METTL4 rs28802380 NA Skin color NA NA NA NA 18 NA NA
PLOS Genetics G>A,T North American North America CDH19 rs10503107 NA Skin color NA NA NA NA 18 NA NA
95 Simcoe et al. Science Advances 2021 C>T European European GPR157 rs6693258 NA Eye color NA NA NA 9.86E-10 1 Intronic NA
Science Advances T>A,C,G European European HIVEP3 rs6696511 NA Eye color NA NA NA 1.35E-45 1 Intronic NA
Science Advances A>G European European DTL rs351385 NA Eye color NA NA NA 2.31E-28 1 Intronic NA
Science Advances T>A,C European European LYST rs2385028 NA Eye color NA NA NA 2.43E-12 1 Intronic NA
Science Advances C>G,T European European PRKCE rs13016869 NA Eye color NA NA NA 2.23E-10 2 Intronic NA
Science Advances G>C European European INO80D rs112747614 NA Eye color NA NA NA 3.69E-11 2 Intronic NA
Science Advances T>A European European WNT10A rs121908120 NA Eye color NA NA NA 1.54E-08 NA Intronic NA
Science Advances G>A,T European European FARSB rs12614022 NA Eye color NA NA NA 4.26E-10 NA Intronic NA
Science Advances C>G,T European European TRAF3IP1 rs74409360 NA Eye color NA NA NA 8.09E-20 NA Intronic NA
Science Advances T>A,G European European CCDC13 rs3912104 NA Eye color NA NA NA 1.47E-09 NA Intronic NA
Science Advances G>A European European MITF rs116359091 NA Eye color NA NA NA 1.02E-20 3 Intronic NA
Science Advances C>G,T European European PPARGC1A rs4521336 NA Eye color NA NA NA 1.28E-09 NA Intronic NA
Science Advances G>A European European NA rs141318671 NA Eye color NA NA NA 2.09E-08 NA NA NA
Science Advances G>T European European TIGD2 rs6828137 NA Eye color NA NA NA 3.93E-08 NA NA NA
Science Advances G>A European European PDCD6, AHRR rs62330021 NA Eye color NA NA NA 1.36E-80 5 Intronic NA
Science Advances G>C European European SLC45A2 rs16891982 NA Eye color NA NA NA 1.97E-255 5 Exonic Missence
Science Advances A>G European European DAB2 rs348613 NA Eye color NA NA NA 2.54E-09 NA NA NA
Science Advances T>C European European ZNF608 rs72777200 NA Eye color NA NA NA 1.22E-13 NA NA NA
Science Advances G>A,T European European ADRB2 rs11957757 NA Eye color NA NA NA 2.94E-08 NA NA NA
Science Advances C>T European European IRF4 rs12203592 NA Eye color NA NA NA 1.61E-321 6 Intronic NA
Science Advances A>G,T European European GCNT2 rs6910861 NA Eye color NA NA NA 1.20E-24 NA Intronic NA
Science Advances A>G European European TULP4 rs341147 NA Eye color NA NA NA 6.45E-09 NA Intronic NA
Science Advances T>C European European IGFBP3 rs2854746 NA Eye color NA NA NA 1.24E-08 NA Exonic Missence
Science Advances T>C European European SEMA3A rs6944702 NA Eye color NA NA NA 1.71E-10 NA Intronic NA
Science Advances T>A,C,G European European LONRF1 rs6997494 NA Eye color NA NA NA 1.07E-10 NA NA NA
Science Advances G>A European European AP3M2 rs12543326 NA Eye color NA NA NA 9.07E-09 NA NA NA
Science Advances C>T European European ZBTB10 rs147068120 NA Eye color NA NA NA 8.34E-10 NA NA NA
Science Advances G>A European European TYRP1 rs13297008 NA Eye color NA NA NA 4.99E-250 9 NA NA
Science Advances T>C,G European European MOB3B rs12552712 NA Eye color NA NA NA 2.79E-13 NA Intronic NA
Science Advances C>T European European IER5L rs12335410 NA Eye color NA NA NA 1.28E-10 NA NA NA
Science Advances G>A European European TPCN2 rs72928978 NA Eye color NA NA NA 6.42E-32 11 Exonic Missence
Science Advances A>G European European TYR rs1126809 Arg402Gln Eye color NA NA NA NA 11 Exonic Missence
Science Advances A>C European European SOX5 rs9971729 NA Eye color NA NA NA 5.03E-27 12 Intronic NA
Science Advances T>A,C European European BTG1 rs790464 NA Eye color NA NA NA 4.50E-10 NA Intronic NA
Science Advances G>A European European KLF12 rs2095645 NA Eye color NA NA NA 3.26E-10 NA Intronic NA
Science Advances G>A,T European European DCT rs9301973 NA Eye color NA NA NA 1.48E-16 13 Intronic NA
Science Advances A>C European European ZFP36L1 rs138777265 NA Eye color NA NA NA 6.21E-10 NA NA NA
Science Advances T>A,C European European SLC24A4 rs17184180 NA Eye color NA NA NA NA 14 Intronic NA
Science Advances A>C,G,T European European OCA2 rs4778218 NA Eye color NA NA NA 1E-330 15 Intronic NA
Science Advances C>T European European HERC2 rs1129038 NA Eye color NA NA NA 1E-330 15 3 prime UTR NA
Science Advances A>G,T European European SLC24A5 rs1426654 NA Eye color NA NA NA 2.72E-26 15 Exonic NA
Science Advances G>C,T European European UBE2I rs761063 NA Eye color NA NA NA 2.07E-09 16 Exonic NA
Science Advances C>T European European SMG6 rs4790309 NA Eye color NA NA NA 3.71E-08 17 Exonic NA
Science Advances G>A European European MAP2K6 rs3809761 NA Eye color NA NA NA 5.08E-09 17 Intronic NA
Science Advances A>C,G,T European European TSPAN10 rs6420484 NA Eye color NA NA NA 7.53E-90 17 intragenic NA
Science Advances G>T European European ZNF358 rs73488486 NA Eye color NA NA NA 2.40E-11 19 Intronic NA
Science Advances G>A European European SLC23A2 rs2748901 NA Eye color NA NA NA 3.37E-10 20 Intronic NA
Science Advances G>A,C,T European European TTC3 rs2835660 NA Eye color NA NA NA 1.62E-17 21 Intronic NA
Science Advances A>C,G,T European European SIK1 rs622330 NA Eye color NA NA NA 3.87E-49 21 Exonic NA
Science Advances A>C,T European European SSX1 rs78542430 NA Eye color NA NA NA 5.93E-53 X Intronic NA
Science Advances C>A,G,T European European TMEM255A rs5957354 NA Eye color NA NA NA 5.43E-23 X Intronic NA
Science Advances C>A,G,T European European WNT7B rs35051352 NA Eye color NA NA NA 3.33E-14 22 Intronic NA

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