rs74653330

This is a variant in the OCA2 gene that changes a alanine to an threonine.

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GWAS Catalog Trait Associations (7)

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

hair color

Morgan MD et al. “Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.” Nature Communications 9(1):5271 (2018)
Allele T
OR 9.29
p 3.0e-84
N 323,317
Major Consortium StudyLarge GWAS
European

strand of hair color

Jiang L et al. “A generalized linear mixed model association tool for biobank-scale data.” Nature Genetics 53(11):1616-1621 (2021)
Allele T
OR 1.69
p 8.0e-36
N 455,164
Large GWAS
European

skin neoplasm

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.63
p 7.0e-15
N 670,929
Large GWAS
multi-ancestry

sunburn

Inoue Y et al. “Search for genetic loci involved in the constitution and skin type of a Japanese women using a genome-wide association study.” Experimental Dermatology 30(12):1787-1793 (2021)
Allele T
OR 0.34
p 1.0e-12
N 1,108
Large GWAS
East Asian

Abnormality of skin pigmentation

Kim B et al. “Mapping and annotating genomic loci to prioritize genes and implicate distinct polygenic adaptations for skin color.” Nature Communications 15(1):4874 (2024)
Allele T
OR 0.34
p 2.0e-137
N 48,433
Large GWAS
East Asian

aging rate

Lee SG et al. “Identification of Genetic Loci Associated with Facial Wrinkles in a Large Korean Population.” The Journal of Investigative Dermatology 142(10):2824-2827 (2022)
Allele T
OR 2.11
p 2.0e-11
N 11,079
Large GWAS
East Asian

facial pigmentation

Seo JY et al. “GWAS Identifies Multiple Genetic Loci for Skin Color in Korean Women.” The Journal of Investigative Dermatology 142(4):1077-1084 (2022)
Allele T
OR 1.09
p 2.0e-48
N 11,079
Large GWAS
East Asian
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ClinVar annotation

Pathogenic★★★☆
16 submitters15 publications

OCA2-related disorder; Tyrosinase-positive oculocutaneous albinism (OCA2); not specified

View on ClinVar →
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Research that mentions this SNP (2)

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Technical note: Quantitative measures of iris color using high resolution photographs
AssociationN=402Melissa Edwards et al.(2012)· American Journal of Physical Anthropology

This genome-wide association study (GWAS) of pigmentary traits in East Asian populations (N=305 skin, N=342 iris) identifies a genome-wide significant signal for iris color in the OCA2 region, with rs1800414 (His615Arg) explaining 11.9%, 10.4%, and 6% of variation in b*, a*, and L* coordinates respectively. While no genome-wide significant signals were detected for skin pigmentation, rs2373391 in ZNF804B was replicated in independent Chinese samples (p=0.003).

Traits studied:Iris colorSkin pigmentation
PubMedDOIMetascience Observatory
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The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism
ReviewOetting WS et al.(2009)· American Journal of Medical Genetics Part A

Genome-wide association studies and comparative genomics have identified major pigmentation loci (SLC24A5, SLC45A2, TYR, OCA2, MC1R, IRF4, TPCN2) showing evidence of strong natural selection in human populations. Light skin variants in Europeans and Asians underwent complete or near-complete selective sweeps, with SLC24A5 rs1426654 and SLC45A2 variants representing independent evolutionary mechanisms. Critical skin-lightening variants arose 11,000-30,000 years ago during human demographic expansion, driven by UV radiation exposure, vitamin D synthesis requirements, and possibly sexual selection.

Traits studied:Basal cell carcinomaCutaneous melanomaEye colorHair colorMelanin contentOculocutaneous albinismPigmentationRed hairSkin color
PubMedDOIMetascience Observatory

About OCA2

This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

View all OCA2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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