rs2228479, known as Val92Met or V92M, is one of several SNPs in the MC1R gene commonly associated with red (or blond) hair and poor tanning, but note its high presence in one Asian population [PMID 7581459, PMID 16463023]
The risk allele is rs2228479(A), compared with the wild-type rs2228479(G) allele.
See also OMIM 155555.0002
|Disease||Skin/hair/eye pigmentation 2 Skin/hair/eye pigmentation 2|
|CLNDBN||Skin/hair/eye pigmentation 2, red hair/fair skin Skin/hair/eye pigmentation 2, blond hair/fair skin|
|CLNSRC||OMIM Allelic Variant|
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[PMID 20042077] Genetic determinants of hair and eye colours in the Scottish and Danish populations.
[PMID 20670983] The Multiple Sclerosis Severity Score: associations with MC1R single nucleotide polymorphisms and host response to ultraviolet radiation.
[PMID 21052032] Sequence polymorphisms of MC1R gene and their association with depression and antidepressant response.
[PMID 23744330] [Association study of MC1R gene polymorphisms with freckles in Chinese Han population from Chengdu]