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
21 Sulem et al. Nature Genetics 2008 A > G European Icelandic , Dutch ASIP rs1015362 NA Hair color NA NA NA NA 20 NA
G > T European Icelandic , Dutch ASIP rs4911414 NA Hair color NA NA NA NA 20 NA
A>T European Icelandic , Dutch TPCN2 rs35264875 NA Hair color NA NA NA NA 11 Intragenic
G>A European Icelandic , Dutch TPCN2 rs3829241 NA Hair color NA NA NA NA 11 Intragenic
C > T European Icelandic , Dutch TYRP1 rs1408799 NA Eye, Hair color NA NA NA NA 9 NA
22 Sturm et al. John wiley & sons 2009 T > C NA NA HERC2 rs12913832 NA Eye color NA NA NA NA 15 Intragenic
C > A NA NA TYR rs1042602 Ser192Ty Eye color NA NA NA NA 11 Intragenic
G > A NA NA TYR rs1800422 Arg402Gln Eye color NA NA NA NA 11 Intragenic
G > A NA NA TYR rs1126809 Arg402Gln Eye color NA NA NA NA 11 Intragenic
G > A NA NA TYR rs1393350 NA Eye color NA NA NA NA 11 Intragenic
C > T NA NA TYRP1 rs1408799 NA Eye color NA NA NA NA 9 NA
C > T NA NA TYRP1 rs2733832 NA Eye color NA NA NA NA 9 Downstream
C > A NA NA TYRP1 rs683 NA Eye color NA NA NA NA 9 Intragenic
G>A NA NA OCA2 rs1800401 R305W Eye color NA NA NA NA 15 Intragenic
G > A NA NA OCA2 rs1800407 R419Q Eye color NA NA NA NA 15 Intragenic
T>C NA NA OCA2 rs1800414 H591R Eye color NA NA NA NA 15 Intragenic
G > A NA NA SLC45A2 rs26722 Glu272Lys Eye color NA NA NA NA 5 Intragenic
G > A NA NA SLC45A2 rs16891982 Leu374Phe Eye color NA NA NA NA 5 Intragenic
A > G NA NA ASIP rs4911442 NA Eye color NA NA NA NA 20 Intragenic
A > G NA NA ASIP rs6058017 NA Eye color NA NA NA NA 20 Intragenic
A > G NA NA ASIP rs1015362 NA Eye color NA NA NA NA 20 NA
G > T NA NA ASIP rs4911414 NA Eye color NA NA NA NA 20 NA
C > T NA NA IRF4 rs12203592 NA Eye color NA NA NA NA 6 Intragenic
G > A NA NA IRF4 rs1540771 NA Eye color NA NA NA NA 6 NA
G > T NA NA SLC24A4 rs12896399 NA Eye color NA NA NA NA 14 Intragenic
23 Branicki et al. Annals of Human Genetics 2009 A>G,T European European OCA2 rs7495174 NA Skin, hair, eye color NA NA NA NA 15 Intragenic
A>C European European OCA2 rs4778241 NA Skin, hair, eye color NA NA NA NA 15 Intragenic
A>C,G,T European European OCA2 rs4778138 NA Skin, hair, eye color NA NA NA NA 15 Intragenic
T>C,G European European HERC2 rs916977 NA Skin, hair, eye color NA NA NA NA 15 Intragenic
G>A European European HERC2 rs12913832 NA Skin, hair, eye color NA NA NA NA 15 Intragenic
24 Nan et al. Int. J. of Cancer 2009 C > A Others Caucasian TYR rs1042602 NA Skin color NA NA NA NA 11 Intragenic
G > A Others Caucasian TYR rs1126809 R402Q Skin color NA NA NA NA 11 Intragenic
G>A Others Caucasian TYR rs1393350 NA Skin color NA NA NA NA 11 Intragenic
C>T Others Caucasian TYRP1 rs1408799 NA Skin color NA NA NA NA 9 NA
G>A Others Caucasian OCA2 rs1800401 R305W Skin color NA NA NA NA 15 Intragenic
C>T Others Caucasian OCA2 rs1800407 R419Q Skin color NA NA NA NA 15 Intragenic
C>G Others Caucasian SLC45A2 rs13289 NA Skin color NA NA NA NA 5 3 prime UTR
G>A Others Caucasian SLC45A2 rs26722 NA Skin color NA NA NA NA 5 Intragenic
G>C Others Caucasian SLC45A2 rs16891982 NA Skin color NA NA NA NA 5 Intragenic
T>A,C Others Caucasian SLC24A5 rs17426596 NA Skin color NA NA NA NA 15 Intragenic
C>T Others Caucasian POMC rs1042571 NA Skin color NA NA NA NA 2 3 prime UTR
G>T Others Caucasian ASIP rs4911414 NA Skin color NA NA NA NA 20 NA
G>A Others Caucasian ASIP rs1015362 NA Skin color NA NA NA NA 20 NA
A>G Others Caucasian ASIP rs6058017 NA Skin color NA NA NA NA 20 Intragenic
C>T Others Caucasian ATRN rs17782078 NA Skin color NA NA NA NA 20 Intragenic
C>T Others Caucasian ATRN rs3886999 NA Skin color NA NA NA NA 20 Intragenic
25 Jonas et al. BMC Genetics 2009 G>A,T European Scottish, Danish HPS3 rs4681169 NA Eye, Hair color NA NA NA NA 3 Intragenic
C>T European Scottish, Danish HPS3 rs16861514 NA Eye, Hair color NA NA NA NA 3 Intragenic
T>C European Scottish, Danish HPS3 rs16861552 NA Eye, Hair color NA NA NA NA 3 Intragenic
G>A,T European Scottish, Danish HPS3 rs6785780 NA Eye, Hair color NA NA NA NA 3 Intragenic
G>A European Scottish, Danish HPS3 rs7636389 NA Eye, Hair color NA NA NA NA 3 Intragenic
G>A European Scottish, Danish DTNBP1 rs17470454 NA Eye, Hair color NA NA NA NA 6 Intragenic
C>T European Scottish, Danish TYRP1 rs17346161 NA Eye, Hair color NA NA NA NA 9 Intragenic
C>A European Scottish, Danish ERCC6 rs1018603 NA Eye, Hair color NA NA NA NA 10 Intragenic
T>A,C,G European Scottish, Danish ERCC6 rs4253162 NA Eye, Hair color NA NA NA NA 10 Intragenic
T>A,C European Scottish, Danish KITLG rs1492354 NA Eye, Hair color NA NA NA NA 12 Intragenic
G>A,C,T European Scottish, Danish KITLG rs1907702 NA Eye, Hair color NA NA NA NA 12 Intragenic
A>G European Scottish, Danish KITLG rs10777129 NA Eye, Hair color NA NA NA NA 12 Intragenic
A>G,T European Scottish, Danish OCA2 rs7495174 NA Eye, Hair color NA NA NA NA 15 Intragenic
G>A,C,T European Scottish, Danish OCA2 rs7174027 NA Eye, Hair color NA NA NA NA 15 Intragenic
T>A,C,G European Scottish, Danish OCA2 rs12442147 NA Eye, Hair color NA NA NA NA 15 Intragenic
C>A European Scottish, Danish OCA2 rs12324648 NA Eye, Hair color NA NA NA NA 15 Intragenic
G>A,C,T European Scottish, Danish OCA2 rs1470608 NA Eye, Hair color NA NA NA NA 15 Intragenic
C>A,G,T European Scottish, Danish OCA2 rs3794604 NA Eye, Hair color NA NA NA NA 15 Intragenic
C>A,G European Scottish, Danish OCA2 rs749846 NA Eye, Hair color NA NA NA NA 15 Intragenic
C>T European Scottish, Danish OCA2 rs1375166 NA Eye, Hair color NA NA NA NA 15 Intragenic
G>C,A,T European Scottish, Danish OCA2 rs2311470 NA Eye, Hair color NA NA NA NA 15 Intragenic
A>G,T European Scottish, Danish OCA2 rs11858340 NA Eye, Hair color NA NA NA NA 15 Intragenic
A>C,G European Scottish, Danish OCA2 rs6497235 NA Eye, Hair color NA NA NA NA 15 Intragenic
G>A European Scottish, Danish OCA2 rs11074306 NA Eye, Hair color NA NA NA NA 15 Intragenic
T>A,C,G European Scottish, Danish OCA2 rs6497233 NA Eye, Hair color NA NA NA NA 15 Intragenic
A>C,G,T European Scottish, Danish OCA2 rs17674017 NA Eye, Hair color NA NA NA NA 15 Intragenic
G>A,C,T European Scottish, Danish OCA2 rs1498509 NA Eye, Hair color NA NA NA NA 15 Intragenic
G>A European Scottish, Danish OCA2 rs11631195 NA Eye, Hair color NA NA NA NA 15 Intragenic
C>A,T European Scottish, Danish OCA2 rs3947367 NA Eye, Hair color NA NA NA NA 15 Intragenic
A>G European Scottish, Danish OCA2 rs11637518 NA Eye, Hair color NA NA NA NA 15 Intragenic
C>A,G,T European Scottish, Danish OCA2 rs989869 NA Eye, Hair color NA NA NA NA 15 Intragenic
A>G,T European Scottish, Danish OCA2 rs1603784 NA Eye, Hair color NA NA NA NA 15 Intragenic
T>C European Scottish, Danish MYO05 rs1615028 NA Eye, Hair color NA NA NA NA 15 Intragenic
A>C European Scottish, Danish MYO05 rs1724593 NA Eye, Hair color NA NA NA NA 15 Intragenic
C>A,G,T European Scottish, Danish MYO05 rs7176061 NA Eye, Hair color NA NA NA NA 15 Intragenic
C>A,G,T European Scottish, Danish MYO05 rs1724625 NA Eye, Hair color NA NA NA NA 15 Intragenic
G>A,C European Scottish, Danish MYO05 rs1724630 NA Eye, Hair color NA NA NA NA 15 Intragenic
C>G,T European Scottish, Danish MYO05 rs1632403 NA Eye, Hair color NA NA NA NA 15 Intragenic
A>C,G,T European Scottish, Danish PRKAR1A rs2952275 NA Eye, Hair color NA NA NA NA 17 Intragenic
C>A,G European Scottish, Danish PRKAR1A rs8080306 NA Eye, Hair color NA NA NA NA 17 Intragenic
A>G,T European Scottish, Danish GNAS rs2295583 NA Eye, Hair color NA NA NA NA 20 Intragenic
G>A European Scottish, Danish GNAS rs3730168 NA Eye, Hair color NA NA NA NA 20 Intragenic
T>C,G European Scottish, Danish GNAS rs919197 NA Eye, Hair color NA NA NA NA 20 Intragenic
C>A,T European Scottish, Danish HPS4 rs9613187 NA Eye, Hair color NA NA NA NA 22 Intragenic
C>G,T European Scottish, Danish HPS4 rs17401652 NA Eye, Hair color NA NA NA NA 22 Intragenic

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