HPDB: Human Pigmentation Database
HPDB: Pigmentation Database 
  Home | Catalogue | Contributors | FAQ | Bioclues
FAQs


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
76 Lin et al. PNAS 2018 A>G,T African African SLC24A5 rs1426654 NA Skin color NA NA NA NA 15 Exonic NA
77 Yang et al. Molecular Biology and Evolution 2018 A>G Eurasian Eurasian KITLG rs642742 NA Skin color NA NA NA NA 12 NA NA
Molecular Biology and Evolution T>A,C,G Eurasian Eurasian KITLG rs12821256 NA Skin color NA NA NA NA 12 NA NA
Molecular Biology and Evolution C>A,G,T Eurasian Eurasian KITLG rs6538148 NA Skin color NA NA NA NA 12 NA NA
Molecular Biology and Evolution A>G,T Eurasian Eurasian KITLG rs4590952 NA Skin color NA NA NA NA 12 Intronic NA
Molecular Biology and Evolution C>A,G Eurasian Eurasian KITLG rs1703078 NA Skin color NA NA NA NA 12 Intergenic NA
Molecular Biology and Evolution G>A,C Eurasian Eurasian KITLG rs4073022 NA Skin color NA NA NA NA 12 NA NA
Molecular Biology and Evolution T>A Eurasian Eurasian KITLG rs428316 NA Skin color NA NA NA NA 12 NA NA
Molecular Biology and Evolution A>G Eurasian Eurasian KITLG rs642742 NA Skin color NA NA NA NA 12 NA NA
Molecular Biology and Evolution T>A,C Eurasian Eurasian KITLG rs1492354 NA Hair color NA NA NA NA 12 Intronic NA
Molecular Biology and Evolution G>A,C,T Eurasian Eurasian KITLG rs1907702 NA Hair color NA NA NA NA 12 Intronic NA
Molecular Biology and Evolution A>G Eurasian Eurasian KITLG rs10777129 NA Hair color NA NA NA NA 12 Intronic NA
78 Morgan et al. Nature Communications 2018 C>T European European MC1R rs34357723 NA Hair color NA NA NA NA 16 Intragenic NA
Nature Communications G>A European European MC1R rs368507952 NA Hair color NA NA NA NA 16 Exonic Missence
Nature Communications C>G,T European European MC1R rs200000734 NA Hair color NA NA NA NA 16 Exonic NA
Nature Communications C>T European European MC1R rs3212379 NA Hair color NA NA NA NA 16 Intronic NA
79 Adhikari et al. Nature Communications 2019 T>A,C,G Others Candela sample DSTYK rs3795556 NA Skin color NA NA NA NA 1 3 prime UTR NA
Nature Communications C>G Others Candela sample SLC45A2 rs16891982 NA Skin color NA NA NA NA 5 Exonic Missence
Nature Communications C>T Others Candela sample IRF4 rs12203592 NA Skin color NA NA NA NA 6 Intronic NA
Nature Communications C>G,T Others Candela sample TYRP1 rs10809826 NA Skin color NA NA NA NA 9 NA NA
Nature Communications C>T Others Candela sample EMX2 rs11198112 NA Skin color NA NA NA NA 10 NA NA
Nature Communications G>T Others Candela sample GRM5, TYR rs7118677 NA Skin color NA NA NA NA 11 Intronic NA
Nature Communications C>A Others Candela sample TYR rs1042602 NA Skin color NA NA NA NA 11 Exonic NA
Nature Communications G>A Others Candela sample TYR rs1126809 Arg402Gln Skin color NA NA NA NA 11 Exonic Missence
Nature Communications C>T Others Candela sample OCA2 rs4778219 NA Skin color NA NA NA NA 15 Intronic NA
Nature Communications C>T Others Candela sample OCA2 rs1800407 Arg419Gln Skin color NA NA NA NA 15 Exonic Missence
Nature Communications C>T Others Candela sample OCA2 rs1800404 NA Skin color NA NA NA NA 15 Exonic Synonymous
Nature Communications G>A Others Candela sample HERC2 rs12913832 NA Skin color NA NA NA NA 15 Intronic NA
Nature Communications T>A,C,G Others Candela sample HERC2 rs4778249 NA Skin color NA NA NA NA 15 Intronic NA
Nature Communications A>G,T Others Candela sample SLC24A5 rs1426654 NA Skin color NA NA NA NA 15 Exonic NA
Nature Communications G>A Others Candela sample MC1R rs885479 NA Skin color NA NA NA NA 16 Exonic NA
Nature Communications A>G Others Candela sample MFSD12 rs2240751 NA Skin color NA NA NA NA 19 Exonic Missence
Nature Communications G>A Others Candela sample WFDC5 rs17422688 NA Skin color NA NA NA NA 20 Exonic Missence
Nature Communications G>A Others Candela sample MPST rs5756492 NA Skin color NA NA NA NA 22 Intronic NA
80 Jonnalagadda et al. Genome Biology and Evolution 2019 G>A,C South Asian Canadian South Asian, Indian HERC2 rs12898729 NA Eye color NA NA NA NA 15 Intronic NA
Genome Biology and Evolution G>A South Asian Canadian South Asian, Indian HERC2 rs12913832 NA Eye color NA NA NA NA 15 Intronic NA
Genome Biology and Evolution C>T South Asian Canadian South Asian, Indian HERC2 rs12916300 NA Eye color NA NA NA NA 15 Intronic NA
Genome Biology and Evolution A>G,T South Asian Canadian South Asian, Indian SLC24A5 rs1426654 NA Eye, Skin color NA NA NA NA 15 Exonic NA
Genome Biology and Evolution C>T South Asian Canadian South Asian, Indian GALNT12 rs1129038 NA Eye, Skin color NA NA NA NA 9 3 prime UTR NA
Genome Biology and Evolution C>A,G South Asian Canadian South Asian, Indian SLC45A2 rs16891982 NA Eye, Skin color NA NA NA NA 5 Exonic Missence
Genome Biology and Evolution C>G,T South Asian Canadian South Asian, Indian SLC45A2 rs35412 NA Eye, Skin color NA NA NA NA 5 Intronic NA
Genome Biology and Evolution C>G,T South Asian Canadian South Asian, Indian IRF4 rs12203592 NA Eye, Skin color NA NA NA NA 6 Intronic NA
Genome Biology and Evolution T>C South Asian Canadian South Asian, Indian DDB1 rs11230664 NA Eye, Skin color NA NA NA NA 11 Intronic NA
Genome Biology and Evolution NA South Asian Canadian South Asian, Indian TKFC rs148172827 NA Eye, Skin color NA NA NA NA 11 NA NA
Genome Biology and Evolution T>A,C,G South Asian Canadian South Asian, Indian TMEM138 rs7948623 NA Eye, Skin color NA NA NA NA 11 Intronic NA
Genome Biology and Evolution C>A,G,T South Asian Canadian South Asian, Indian TMEM138 rs1377457 NA Eye, Skin color NA NA NA NA 11 Exonic NA
Genome Biology and Evolution A>C South Asian Canadian South Asian, Indian TYR rs1042602 NA Eye, Skin color NA NA NA NA 11 Exonic NA
Genome Biology and Evolution C>A,T South Asian Canadian South Asian, Indian OCA2 rs1800404 NA Eye, Skin color NA NA NA NA 15 Exonic Synonymous
Genome Biology and Evolution T>A,C,G South Asian Canadian South Asian, Indian HERC2 rs4932620 NA Eye, Skin color NA NA NA NA 15 Intronic NA
Genome Biology and Evolution T>C South Asian Canadian South Asian, Indian MC1R rs4268748 NA Eye, Skin color NA NA NA NA 16 Intronic NA

Ideated by Genophen Lab,   BHU    &   Bioclues