rs201326893

This is a stop gained variant in the MC1R gene.

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GWAS Catalog Trait Associations (2)

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 A

OR 288.80

p 2.0e-61

N 299,651

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 A

OR 4.96

p 4.0e-36

N 455,164

Large GWAS

European

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ClinVar annotation

Pathogenic★☆☆☆

5 submitters21 publications

Increased analgesia from kappa-opioid receptor agonist, female-specific; Melanoma, cutaneous malignant, susceptibility to, 5; SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (SHEP2); Tyrosinase-positive oculocutaneous albinism (OCA2)

View on ClinVar →

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Research that mentions this SNP (1)

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MC1R common variants, CDKN2A and their association with melanoma and breast cancer risk

AssociationN=362Tadeusz Dȩbniak et al.(2006)· International Journal of Cancer

This Danish study of 246 healthy individuals and 116 at-risk melanoma patients investigated associations between 32 pigmentary SNPs and quantitative skin color, nevi count, and familial atypical multiple-mole and melanoma (FAMMM) syndrome. Individuals carrying two or more MC1R variants (including missense mutations p.TYR152* and frameshift p.Asn29Glnfs*14) had significantly lighter skin on the upper-inner arm (p<0.001) reflecting impaired tanning ability, but no associations were found with FAMMM syndrome, suggesting FAMMM genetics are distinct from pigmentation pathways.

Traits studied:Atypical nevi countFamilial atypical multiple-mole and melanoma (FAMMM) syndromeMelanoma riskNevi countSkin color (quantitative)

PubMed DOI Metascience Observatory

About MC1R

This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation. [provided by RefSeq, Jul 2008]