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
31 Branicki et al. Human Genetics 2011 G>C European Polish SLC45A2 rs16891982 NA Hair color NA NA NA 0.002 5 Intragenic
C>A European Polish SLC45A2 rs28777 NA Hair color NA NA NA 0.001 5 Intragenic
G>A European Polish SLC45A2 rs26722 NA Hair color NA NA NA 0.006 5 Intragenic
C > T European Polish IRF4 rs12203592 NA Hair color NA NA NA 0.011 6 Intragenic
A>C European Polish IRF4 rs9378805 NA Hair color NA NA NA 0.103 6 NA
C>A,G,T European Polish EXOC2 rs4959270 NA Hair color NA NA NA 0.02 6 NA
C > T European Polish TYRP1 rs1408799 NA Hair color NA NA NA 0.097 9 NA
C>A,G,T European Polish TYRP1 rs2733832 NA Hair color NA NA NA 0.177 9 Downstream
C > A European Polish TYRP1 rs683 NA Hair color NA NA NA 0.099 9 Intragenic
A>T European Polish TPCN2 rs35264875 NA Hair color NA NA NA 0.158 11 Intragenic
G>A European Polish TPCN2 rs3829241 NA Hair color NA NA NA 0.183 11 Intragenic
G>A European Polish TPCN2 rs2305498 NA Hair color NA NA NA 0.23 11 NA
T>A,C,G European Polish TPCN2 rs1011176 NA Hair color NA NA NA 0.096 11 Intragenic
C > A European Polish TYR rs1042602 NA Hair color NA NA NA 0.255 11 Intragenic
G > A European Polish TYR rs1393350 NA Hair color NA NA NA 0.041 11 Intragenic
T>A,C,G European Polish KITLG rs12821256 NA Hair color NA NA NA 0.052 12 NA
G > T European Polish SLC24A4 rs12896399 NA Hair color NA NA NA 0.064 14 Intragenic
T>C European Polish SLC24A4 rs4904868 NA Hair color NA NA NA 0.037 14 Intragenic
G>A,C,T European Polish SLC24A4 rs2402130 NA Hair color NA NA NA 0.033 14 Intragenic
C>T European Polish OCA2 rs1800407 R419Q Hair color NA NA NA 0.038 15 Intragenic
G>A European Polish OCA2 rs1800401 R305W Hair color NA NA NA 0.105 15 Intragenic
G>A,C European Polish OCA2 rs16950821 NA Hair color NA NA NA 0.17 15 Intragenic
G>A,C,T European Polish OCA2 rs7174027 NA Hair color NA NA NA 0.146 15 Intragenic
A>C,G,T European Polish OCA2 rs4778138 NA Hair color NA NA NA 0.043 15 Intragenic
A>C European Polish OCA2 rs4778241 NA Hair color NA NA NA 0.078 15 Intragenic
A>G,T European Polish OCA2 rs7495174 NA Hair color NA NA NA 0.069 15 Intragenic
G>A European Polish HERC2 rs12913832 NA Hair color NA NA NA 4.30E-06 15 Intragenic
C>A European Polish HERC2 rs7183877 NA Hair color NA NA NA 0.124 15 Intragenic
C>A,G,T European Polish HERC2 rs11635884 NA Hair color NA NA NA 0.135 15 Intragenic
T>C,G European Polish HERC2 rs916977 NA Hair color NA NA NA 0.001 15 Intragenic
C>T European Polish HERC2 rs8039195 NA Hair color NA NA NA 0.002 15 Intragenic
G>T European Polish MC1R rs1805005 NA Hair color NA NA NA 0.001 16 Intragenic
C>A European Polish MC1R rs1805006 NA Hair color NA NA NA 0.476 16 Intragenic
G>A European Polish MC1R rs2228479 NA Hair color NA NA NA 0.043 16 Intragenic
G>A European Polish MC1R rs11547464 NA Hair color NA NA NA 0.042 16 Intragenic
C>T European Polish MC1R rs1805007 NA Hair color NA NA NA 9.30E-09 16 Intragenic
T>C European Polish MC1R rs1110400 NA Hair color NA NA NA 0.314 16 Intragenic
C>T European Polish MC1R rs1805008 NA Hair color NA NA NA 3.20E-10 16 Intragenic
G>A European Polish MC1R rs885479 NA Hair color NA NA NA 0.017 16 Intragenic
G>A,C European Polish MC1R rs1805009 NA Hair color NA NA NA 0.007 26 Intragenic
A > G European Polish ASIP rs1015362 NA Hair color NA NA NA 0.043 20 NA
A>G European Polish ASIP rs6058017 NA Hair color NA NA NA 0.211 20 Intragenic
G>A,C European Polish ASIP rs2378249 NA Hair color NA NA NA 0.021 20 Intragenic
32 Yuasa et al. Legal medicine 2011 NA Asian East Asian OCA2 NA 481Thr Skin color NA NA NA NA 15 NA
NA Asian East Asian OCA2 NA 615Arg Skin color NA NA NA NA 15 NA
33 Prospiech et al. J of human genetics 2011 A>T European European TPCN2 rs35264875 NA Eye color NA NA NA NA 11 Intragenic
G>A European European TPCN2 rs3829241 NA Eye color NA NA NA NA 11 Intragenic
C>T European European OCA2 rs1800407 R419Q Eye color NA NA NA NA 15 Intragenic
G>A European European HERC2 rs12913832 NA Eye color NA NA NA NA 15 Intragenic
G > T European European ASIP rs4911414 NA Eye color NA NA NA NA 20 NA
A > G European European ASIP rs1015362 NA Eye color NA NA NA NA 20 NA
C > A European European TYRP1 rs683 NA Eye color NA NA NA NA 9 Intragenic
C > T European European TYRP1 rs1408799 NA Eye color NA NA NA NA 9 NA
34 Rees et al. Journal of Investigative Dermatology 2012 A>G,T European European SLC24A5 rs1426654 NA Skin color NA NA NA NA 15 Intragenic
35 Quillen et al. Human Genetics 2012 T>A,G Others American, European ADAM17 rs11895982 NA Skin color NA NA NA NA 2 Intragenic
A>T Others American, European ADAM17 rs7596929 NA Skin color NA NA NA NA 2 Intragenic
G>A,C Others American, European POMC rs551573 NA Skin color NA NA NA NA 2 Intragenic
C>G,T Others American, European POMC rs12233134 NA Skin color NA NA NA NA 2 Intragenic
A>G Others American, European POMC rs10186053 NA Skin color NA NA NA NA 2 NA
A>C,G Others American, European PAX3 rs6748403 NA Skin color NA NA NA NA 2 NA
T>C Others American, European KIT rs2726648 NA Skin color NA NA NA NA 4 Intragenic
G>C Others American, European SLC45A2 rs16891982 NA Skin color NA NA NA NA 5 Intragenic
A>G,T Others American, European OPPM1 rs2333857 NA Skin color NA NA NA NA 6 Intragenic
C>G,T Others American, European OPRMI rs6917661 NA Skin color NA NA NA NA 6 3 prime UTR
A>T Others American, European EGFR rs12668421 NA Skin color NA NA NA NA 7 Intragenic
G>A,T Others American, European EGFR rs11238349 NA Skin color NA NA NA NA 7 Intragenic
G>A,C Others American, European EGFR rs4948023 NA Skin color NA NA NA NA 7 Intragenic
A>G,T Others American, European HPSI rs10736126 NA Skin color NA NA NA NA 10 Intragenic
T>,C Others American, European SILV rs705698 NA Skin color NA NA NA NA 12 Intragenic
A>G,T Others American, European PLDN rs12439639 NA Skin color NA NA NA NA 15 Intragenic
A>G,T Others American, European SLC24A5 rs1426654 NA Skin color NA NA NA NA 15 Intragenic
G>C,T Others American, European MYOSA rs12396 NA Skin color NA NA NA NA 15 3 prime UTR
A>C,G,T Others American, European MYOSA rs8026828 NA Skin color NA NA NA NA 15 Intragenic
G>A Others American, European MYOSA rs4776017 NA Skin color NA NA NA NA 15 Intragenic
T>C Others American, European PAB27A rs11632529 NA Skin color NA NA NA NA 15 NA
G>A Others American, European PAB27A rs16976220 NA Skin color NA NA NA NA 15 Intragenic
C>A,G Others American, European RAB27A rs472579 NA Skin color NA NA NA NA 15 Intragenic
T>A,C Others American, European AP3D1 rs8105923 NA Skin color NA NA NA NA 19 Intragenic
T>A,C Others American, European AP3D1 rs4807227 NA Skin color NA NA NA NA 19 NA
C>G,T Others American, European ATRN rs562926 NA Skin color NA NA NA NA 20 Intragenic
G>A Others American, European ATRN rs3859664 NA Skin color NA NA NA NA 20 Intragenic
T>C,G Others American, European ASIP rs1015361 NA Skin color NA NA NA NA 20 NA
A>C,G,T Others American, European ITCH rs6087577 NA Skin color NA NA NA NA 20 Intragenic

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