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
31 Branicki et al. Human Genetics 2011 G>C European Polish SLC45A2 rs16891982 NA Hair color NA NA NA 2.00E-03 5 Exonic Missence
Human Genetics C>A European Polish SLC45A2 rs28777 NA Hair color NA NA NA 1.00E-03 5 Intronic NA
Human Genetics G>A European Polish SLC45A2 rs26722 NA Hair color NA NA NA 6.00E-03 5 Intronic NA
Human Genetics C>T European Polish IRF4 rs12203592 NA Hair color NA NA NA 1.10E-01 6 Intronic NA
Human Genetics A>C European Polish IRF4 rs9378805 NA Hair color NA NA NA NA 6 NA NA
Human Genetics C>A,G,T European Polish EXOC2 rs4959270 NA Hair color NA NA NA 2.00E-02 6 NA NA
Human Genetics C>T European Polish TYRP1 rs1408799 NA Hair color NA NA NA 9.70E-01 9 NA NA
Human Genetics C>A,G,T European Polish TYRP1 rs2733832 NA Hair color NA NA NA NA 9 Exonic NA
Human Genetics C>A European Polish TYRP1 rs683 NA Hair color NA NA NA 9.90E-01 9 Intronic NA
Human Genetics A>T European Polish TPCN2 rs35264875 NA Hair color NA NA NA NA 11 Exonic Missence
Human Genetics G>A European Polish TPCN2 rs3829241 NA Hair color NA NA NA NA 11 Exonic Missence
Human Genetics G>A European Polish TPCN2 rs2305498 NA Hair color NA NA NA NA 11 NA NA
Human Genetics T>A,C,G European Polish TPCN2 rs1011176 NA Hair color NA NA NA 9.60E-01 11 Intronic NA
Human Genetics C>A European Polish TYR rs1042602 NA Hair color NA NA NA 2.55E+01 11 Exonic NA
Human Genetics G>A European Polish TYR rs1393350 NA Hair color NA NA NA 4.10E-01 11 Intronic NA
Human Genetics T>A,C,G European Polish KITLG rs12821256 NA Hair color NA NA NA 5.20E-01 12 NA NA
Human Genetics G>T European Polish SLC24A4 rs12896399 NA Hair color NA NA NA 6.40E-01 14 Intronic NA
Human Genetics T>C European Polish SLC24A4 rs4904868 NA Hair color NA NA NA 3.70E-01 14 Intronic NA
Human Genetics G>A,C,T European Polish SLC24A4 rs2402130 NA Hair color NA NA NA 3.30E-01 14 Intronic NA
Human Genetics C>T European Polish OCA2 rs1800407 Arg419Gln Hair color NA NA NA 3.80E-01 15 Exonic Missence
Human Genetics G>A European Polish OCA2 rs1800401 Arg305Trp Hair color NA NA NA 1.05E+01 15 Exonic Missence
Human Genetics G>A,C European Polish OCA2 rs16950821 NA Hair color NA NA NA 1.70E+00 15 Intronic NA
Human Genetics G>A,C,T European Polish OCA2 rs7174027 NA Hair color NA NA NA 1.46E+01 15 Intronic NA
Human Genetics A>C,G,T European Polish OCA2 rs4778138 NA Hair color NA NA NA 4.30E-01 15 Intronic NA
Human Genetics A>C European Polish OCA2 rs4778241 NA Hair color NA NA NA 7.80E-01 15 Intronic NA
Human Genetics A>G,T European Polish OCA2 rs7495174 NA Hair color NA NA NA 6.90E-01 15 Intronic NA
Human Genetics G>A European Polish HERC2 rs12913832 NA Hair color NA NA NA 4.30E-06 15 Intronic NA
Human Genetics C>A European Polish HERC2 rs7183877 NA Hair color NA NA NA 1.24E+01 15 Intronic NA
Human Genetics C>A,G,T European Polish HERC2 rs11635884 NA Hair color NA NA NA 1.35E+01 15 Intronic NA
Human Genetics T>C,G European Polish HERC2 rs916977 NA Hair color NA NA NA 1.00E-03 15 Intronic NA
Human Genetics C>T European Polish HERC2 rs8039195 NA Hair color NA NA NA 2.00E-03 15 Intronic NA
Human Genetics G>T European Polish MC1R rs1805005 NA Hair color NA NA NA 1.00E-03 16 Exonic NA
Human Genetics C>A European Polish MC1R rs1805006 NA Hair color NA NA NA 4.76E+01 16 Exonic NA
Human Genetics G>A European Polish MC1R rs2228479 NA Hair color NA NA NA 4.30E-01 16 Exonic NA
Human Genetics G>A European Polish MC1R rs11547464 NA Hair color NA NA NA 4.20E-01 16 Exonic NA
Human Genetics C>T European Polish MC1R rs1805007 NA Hair color NA NA NA 9.30E-09 16 Exonic NA
Human Genetics T>C European Polish MC1R rs1110400 NA Hair color NA NA NA 3.14E+01 16 Exonic NA
Human Genetics C>T European Polish MC1R rs1805008 NA Hair color NA NA NA 3.20E-10 16 Exonic NA
Human Genetics G>A European Polish MC1R rs885479 NA Hair color NA NA NA 1.70E-01 16 Exonic NA
Human Genetics G>A,C European Polish MC1R rs1805009 NA Hair color NA NA NA 7.00E-03 26 Exonic NA
Human Genetics A>G European Polish ASIP rs1015362 NA Hair color NA NA NA 4.30E-01 20 NA NA
Human Genetics A>G European Polish ASIP rs6058017 NA Hair color NA NA NA 2.00E-01 20 Intronic NA
Human Genetics G>A,C European Polish ASIP rs2378249 NA Hair color NA NA NA 2.10E-01 20 Intronic NA
32 Yuasa et al. Legal Medicine 2011 NA Asian East Asian OCA2 NA 481Thr Skin color NA NA NA NA 15 NA NA
Legal Medicine NA Asian East Asian OCA2 NA 615Arg Skin color NA NA NA NA 15 NA NA
33 Prospiech et al. Journal of Human Genetics 2011 A>T European European TPCN2 rs35264875 NA Eye color NA NA NA NA 11 Exonic Missence
Journal of Human Genetics G>A European European TPCN2 rs3829241 NA Eye color NA NA NA NA 11 Exonic Missence
Journal of Human Genetics C>T European European OCA2 rs1800407 Arg419Gln Eye color NA NA NA NA 15 Exonic Missence
Journal of Human Genetics G>A European European HERC2 rs12913832 NA Eye color NA NA NA NA 15 Intronic NA
Journal of Human Genetics G>T European European ASIP rs4911414 NA Eye color NA NA NA NA 20 NA NA
Journal of Human Genetics A>G European European ASIP rs1015362 NA Eye color NA NA NA NA 20 NA NA
Journal of Human Genetics C>A European European TYRP1 rs683 NA Eye color NA NA NA NA 9 Intronic NA
Journal of Human Genetics C>T European European TYRP1 rs1408799 NA Eye color NA NA NA NA 9 NA 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 Exonic NA
35 Quillen et al. Human Genetics 2012 T>A,G American, European American, European ADAM17 rs11895982 NA Skin color NA NA NA NA 2 Intronic NA
Human Genetics A>T American, European American, European ADAM17 rs7596929 NA Skin color NA NA NA NA 2 Intronic NA
Human Genetics G>A,C American, European American, European POMC rs551573 NA Skin color NA NA NA NA 2 Intronic NA
Human Genetics C>G,T American, European American, European POMC rs12233134 NA Skin color NA NA NA NA 2 Intronic NA
Human Genetics A>G American, European American, European POMC rs10186053 NA Skin color NA NA NA NA 2 NA NA
Human Genetics A>C,G American, European American, European PAX3 rs6748403 NA Skin color NA NA NA NA 2 NA NA
Human Genetics T>C American, European American, European KIT rs2726648 NA Skin color NA NA NA NA 4 Intronic NA
Human Genetics G>C American, European American, European SLC45A2 rs16891982 NA Skin color NA NA NA NA 5 Exonic Missence
Human Genetics A>G,T American, European American, European OPPM1 rs2333857 NA Skin color NA NA NA NA 6 Intronic NA
Human Genetics C>G,T American, European American, European OPRMI rs6917661 NA Skin color NA NA NA NA 6 3 prime UTR NA
Human Genetics A>T American, European American, European EGFR rs12668421 NA Skin color NA NA NA NA 7 Intronic NA
Human Genetics G>A,T American, European American, European EGFR rs11238349 NA Skin color NA NA NA NA 7 Intronic NA
Human Genetics G>A,C American, European American, European EGFR rs4948023 NA Skin color NA NA NA NA 7 Intronic NA
Human Genetics A>G,T American, European American, European HPSI rs10736126 NA Skin color NA NA NA NA 10 Intronic NA
Human Genetics T>C American, European American, European SILV rs705698 NA Skin color NA NA NA NA 12 Intronic NA
Human Genetics A>G,T American, European American, European PLDN rs12439639 NA Skin color NA NA NA NA 15 Intronic NA
Human Genetics A>G,T American, European American, European SLC24A5 rs1426654 NA Skin color NA NA NA NA 15 Exonic NA
Human Genetics G>C,T American, European American, European MYOSA rs12396 NA Skin color NA NA NA NA 15 3 prime UTR NA
Human Genetics A>C,G,T American, European American, European MYOSA rs8026828 NA Skin color NA NA NA NA 15 Intronic NA
Human Genetics G>A American, European American, European MYOSA rs4776017 NA Skin color NA NA NA NA 15 Intronic NA
Human Genetics T>C American, European American, European PAB27A rs11632529 NA Skin color NA NA NA NA 15 NA NA
Human Genetics G>A American, European American, European PAB27A rs16976220 NA Skin color NA NA NA NA 15 Intronic NA
Human Genetics C>A,G American, European American, European RAB27A rs472579 NA Skin color NA NA NA NA 15 Intronic NA
Human Genetics T>A,C American, European American, European AP3D1 rs8105923 NA Skin color NA NA NA NA 19 Intronic NA
Human Genetics T>A,C American, European American, European AP3D1 rs4807227 NA Skin color NA NA NA NA 19 NA NA
Human Genetics C>G,T American, European American, European ATRN rs562926 NA Skin color NA NA NA NA 20 Intronic NA
Human Genetics G>A American, European American, European ATRN rs3859664 NA Skin color NA NA NA NA 20 Intronic NA
Human Genetics T>C,G American, European American, European ASIP rs1015361 NA Skin color NA NA NA NA 20 NA NA
Human Genetics A>C,G,T American, European American, European ITCH rs6087577 NA Skin color NA NA NA NA 20 Intronic NA

Ideated by Genophen Lab,   BHU    &   Bioclues