rs1667394

This is a intron variant variant in the HERC2 gene.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

suntan

Visconti A et al. “Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure.” Nature Communications 9(1):1684 (2018)
Allele C
OR 0.23
p 4.0e-78
N 121,296
Large GWAS
European

hair color

Lona-Durazo F et al. “A large Canadian cohort provides insights into the genetic architecture of human hair colour.” Communications Biology 4(1):1253 (2021)
Allele A
OR 1.01
p 3.0e-77
N 12,398
Large GWAS
European
Sulem P et al. “Genetic determinants of hair, eye and skin pigmentation in Europeans.” Nature Genetics 39(12):1443-1452 (2007)
Allele A
OR 4.94
p 6.0e-35
N 2,986
Large GWAS
European

eye color

Sulem P et al. “Genetic determinants of hair, eye and skin pigmentation in Europeans.” Nature Genetics 39(12):1443-1452 (2007)
Allele A
OR 6.74
p 2.0e-53
N 2,986
Large GWAS
European
Candille SI et al. “Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations.” Plos One 7(10):e48294 (2012)
Allele A
OR 0.35
p 2.0e-20
N 175
Small GWAS
European
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ClinVar annotation

Association
1 submitter1 publication

SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES (SHEP1)

View on ClinVar →
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Research that mentions this SNP (1)

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A global view of the OCA2-HERC2 region and pigmentation
AssociationN=3,432Michael P. Donnelly et al.(2012)· Human Genetics

This global population study of 3,432 individuals from 73 populations examined 21 SNPs in the OCA2-HERC2 region associated with eye and skin pigmentation. Blue-eye associated haplotypes (BEH1, BEH2, BEH3) were found at high frequencies in Europe, with BEH2 showing the strongest signal of selection. The East Asian-specific missense SNP rs1800414 (His615Arg) was associated with lighter skin pigmentation and showed strong evidence of positive selection in East Asian populations.

Traits studied:Eye pigmentation (blue eyes)Eye pigmentation (green/hazel eyes)Skin pigmentation (light skin)
PubMedDOIMetascience Observatory

About HERC2

This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]

View all HERC2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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