Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0018498
Disease:
Hair Color
0.800 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
dbSNP: rs1667394
rs1667394
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0015396
Disease:
Eye Color
0.800 GeneticVariation GWASCAT Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. 30166351 2018
dbSNP: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0015396
Disease:
Eye Color
A 0.800 GeneticVariation GWASCAT Additionally, we identified a significant interaction between the SNPs rs7173419 and rs12913832 in the OCA2 gene region on brown eye color (P-value for interaction = 3.8 × 10(-3)). 23548203 2013
dbSNP: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0015396
Disease:
Eye Color
A 0.800 GeneticVariation GWASDB Additionally, we identified a significant interaction between the SNPs rs7173419 and rs12913832 in the OCA2 gene region on brown eye color (P-value for interaction = 3.8 × 10(-3)). 23548203 2013
dbSNP: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0015396
Disease:
Eye Color
G 0.800 GeneticVariation GWASDB Additionally, we identified a significant interaction between the SNPs rs7173419 and rs12913832 in the OCA2 gene region on brown eye color (P-value for interaction = 3.8 × 10(-3)). 23548203 2013
dbSNP: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0015396
Disease:
Eye Color
0.800 GeneticVariation GWASDB Genetics of eye colours in different rural populations on the Silk Road. 23486544 2013
dbSNP: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0015396
Disease:
Eye Color
G 0.800 GeneticVariation GWASCAT Additionally, we identified a significant interaction between the SNPs rs7173419 and rs12913832 in the OCA2 gene region on brown eye color (P-value for interaction = 3.8 × 10(-3)). 23548203 2013
dbSNP: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0018498
Disease:
Hair Color
G 0.800 GeneticVariation GWASCAT Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. 23548203 2013
dbSNP: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0018498
Disease:
Hair Color
G 0.800 GeneticVariation GWASDB Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. 23548203 2013
dbSNP: rs1667394
rs1667394
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0015396
Disease:
Eye Color
0.800 GeneticVariation GWASDB Genetics of eye colours in different rural populations on the Silk Road. 23486544 2013
dbSNP: rs916977
rs916977
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0015396
Disease:
Eye Color
0.800 GeneticVariation GWASDB Genetics of eye colours in different rural populations on the Silk Road. 23486544 2013
dbSNP: rs1129038
rs1129038
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0042900
Disease:
Vitiligo
C 0.800 GeneticVariation GWASCAT Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. 22561518 2012
dbSNP: rs1129038
rs1129038
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0042900
Disease:
Vitiligo
C 0.800 GeneticVariation GWASDB Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. 22561518 2012
dbSNP: rs1667394
rs1667394
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0015396
Disease:
Eye Color
C 0.800 GeneticVariation GWASDB In our two-stage association study, we reproduce the association of rs1667394 at the OCA2/HERC2 locus with eye color but we do not identify new genetic determinants of skin and hair pigmentation supporting the lack of major genes affecting skin and hair color variation within Europe and suggesting that not only careful phenotyping but also larger cohorts are required to understand the genetic architecture of these complex quantitative traits. 23118974 2012
dbSNP: rs1667394
rs1667394
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0015396
Disease:
Eye Color
C 0.800 GeneticVariation GWASCAT In our two-stage association study, we reproduce the association of rs1667394 at the OCA2/HERC2 locus with eye color but we do not identify new genetic determinants of skin and hair pigmentation supporting the lack of major genes affecting skin and hair color variation within Europe and suggesting that not only careful phenotyping but also larger cohorts are required to understand the genetic architecture of these complex quantitative traits. 23118974 2012
dbSNP: rs397518474
rs397518474
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C3809753
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38
0.800 GeneticVariation UNIPROT A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder. 23065719 2012
dbSNP: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0015396
Disease:
Eye Color
A 0.800 GeneticVariation GWASDB Web-based, participant-driven studies yield novel genetic associations for common traits. 20585627 2010
dbSNP: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0018498
Disease:
Hair Color
A 0.800 GeneticVariation GWASDB Web-based, participant-driven studies yield novel genetic associations for common traits. 20585627 2010
dbSNP: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0018498
Disease:
Hair Color
A 0.800 GeneticVariation GWASCAT Web-based, participant-driven studies yield novel genetic associations for common traits. 20585627 2010
dbSNP: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0015396
Disease:
Eye Color
0.800 GeneticVariation GWASDB Digital quantification of human eye color highlights genetic association of three new loci. 20463881 2010
dbSNP: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0015396
Disease:
Eye Color
A 0.800 GeneticVariation GWASCAT Web-based, participant-driven studies yield novel genetic associations for common traits. 20585627 2010
dbSNP: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0015396
Disease:
Eye Color
0.800 GeneticVariation GWASCAT Digital quantification of human eye color highlights genetic association of three new loci. 20463881 2010
dbSNP: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0018498
Disease:
Hair Color
A 0.800 GeneticVariation GWASDB A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. 18483556 2008
dbSNP: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0018498
Disease:
Hair Color
A 0.800 GeneticVariation GWASCAT A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. 18483556 2008
dbSNP: rs916977
rs916977
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0015396
Disease:
Eye Color
0.800 GeneticVariation GWASCAT Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. 18252221 2008