rs121918166

This is a variant in the OCA2 gene that changes a valine to an isoleucine.

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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 5.94
p 2.0e-308
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 1.48
p 5.0e-296
N 455,164
Large GWAS
European

skin pigmentation

Vollenbrock CE et al. “Genome-wide association study identifies novel loci associated with skin autofluorescence in individuals without diabetes.” Bmc Genomics 23(1):840 (2022)
Allele T
OR 0.04
p 7.0e-28
N 27,254
Large GWAS
European

age at onset, eye measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.10
p 2.0e-19
N 394,642
Large GWAS
European

retinal layer thickness

Jackson VE et al. “Multi-omic spatial effects on high-resolution AI-derived retinal thickness.” Nature Communications 16(1):1317 (2025)
Allele T
OR 1.85
p 1.0e-18
N 43,148
Large GWAS
multi-ancestry

amblyopia

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.61
p 2.0e-11
N 447,490
Major Consortium StudyLarge GWAS
European

cutaneous melanoma

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.60
p 4.0e-17
N 446,751
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Pathogenic★★★☆
41 submitters31 publications

Albinism or congenital nystagmus; Inborn genetic diseases; OCA2-related disorder; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES (SHEP1); See cases; Tyrosinase-positive oculocutaneous albinism (OCA2)

View on ClinVar →

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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