rs121918170

This is a variant in the OCA2 gene that changes a asparagine to an aspartate.

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GWAS Catalog Trait Associations (1)

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 C
OR 6.07
p 1.0e-107
N 323,317
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Pathogenic★★★☆
19 submitters11 publications

OCA2-related disorder; Oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES (SHEP1); Tyrosinase-positive oculocutaneous albinism (OCA2)

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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