HPDB: Human Pigmentation Database
HPDB: Pigmentation Database 
  Home | Catalogue | Contributors | FAQ | Bioclues
RSID GenBank HPDB Data PAGE 20


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
106 Basu Mallick et al. PLOS Genetics 2013 A>C,G,T South Asian Indian SLC24A5 rs1426654 Ala111Thr Skin color NA NA NA NA 15 Intragenic NA
107 Rossberg et al. Anticancer Research 2016 G>C European European ATP7A rs10521358 NA Skin color NA NA NA 0.000025 X Intragenic NA
G>A,C,T European European ATP7A rs2227291 NA Skin color NA NA NA 0.000047 X Intragenic NA
C>A,G European European ATP7A rs17139617 NA Skin color NA NA NA 0.000096 X Intragenic NA
C>G, European European MLPH rs7565264 NA Skin color NA NA NA 9.93E-02 2 Intragenic NA
A>G European European PAX3 rs10932949 NA Skin color NA NA NA 4.00E-03 2 Intragenic NA
A>G European European PMEL rs2069408 NA Skin color NA NA NA 1.50E-01 12 Intragenic NA
A>G,T European European MLPH rs7569427 NA Skin color NA NA NA 2.60E-01 2 Intragenic NA
C>A,T European European BLOC1S5 rs9328451 NA Skin color NA NA NA 2.80E-01 6 Intragenic NA
C>A,T European European MLPH rs12469812 NA Skin color NA NA NA 3.00E-02 2 Intragenic NA
C>T European European MLPH rs2292881 NA Skin color NA NA NA 4.10E-01 2 Intragenic NA
A>T European European CNR1 rs6454677 NA Skin color NA NA NA 4.60E-01 6 NA NA
108 Caliebe et al. European Journal of Human Genetics 2016 G>A European Northern Germany HERC2 rs12913832 NA Eye colour NA NA NA 1.20E-04 15 Intragenic NA
C>T European Northern Germany OCA2 rs1800407 NA Eye colour NA NA NA 1.40E-02 15 Intragenic NA
C>A,G,T European Northern Germany MC1R rs1805007 NA Hair colour NA NA NA 1.20E-04 16 Intragenic NA
C>T European Northern Germany MC1R rs1805008 NA Hair colour NA NA NA 1.20E-02 16 Intragenic NA
G>A European Northern Germany HERC2 rs12913832 NA Hair colour NA NA NA 1.20E-04 15 Intragenic NA
C>T European Northern Germany IRF4 rs12203592 NA Hair colour NA NA NA 1.20E-04 6 Intragenic NA
C>T European Northern Germany MC1R rs1805008 NA Skin type NA NA NA 7.20E-04 16 Intragenic NA
C>A,G,T European Northern Germany MC1R rs1805007 NA Skin type NA NA NA 4.20E-01 16 Intragenic NA
G>A European Northern Germany OCA2 rs4778138 NA Skin type NA NA NA 5.90E-02 15 Intragenic NA
109 Wolstein et al. Scientific Reports 2017 G>A European European HERC2 rs12913832 NA Eye color NA NA NA NA 15 Intragenic NA
G>A European European HERC2 rs12913832 NA Eye color NA NA NA 2.37E-16 15 Intragenic NA
C>T European European IRF4 rs12203592 NA Eye color NA NA NA 3.34E-04 6 Intragenic NA
G>A,C,T European European LYST rs3768056 NA Eye color NA NA NA 1.95E-03 1 Intragenic NA
G>A,T European European SLC24A4 rs12896399 NA Eye color NA NA NA 2.77E-02 14 Intragenic NA
110 Rayner et al. Journal of the European Academy of Dermatology and Venereology 2019 A>G,T Australian Australian MTAP rs4636294 NA Skin color NA NA NA NA 9 Intragenic NA

Ideated by Genophen Lab,   BHU    &   Bioclues