rs1805005, known as Val60Leu or V60L, is a SNP in the MC1R gene associated with light blond hair color in one study. [PMID 9302268]
The risk allele is rs1805005(T), compared with the wild-type rs1805005(G) allele.
See also OMIM 155555.0006
|Disease||Skin/hair/eye pigmentation 2|
|CLNDBN||Skin/hair/eye pigmentation 2, blond hair/fair skin|
|CLNSRC||ClinVar OMIM Allelic Variant|
[PMID 17999355] A genomewide association study of skin pigmentation in a South Asian population.
[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 23100201] A single-nucleotide polymorphism (SNP) multiplex system: the association of five SNPs with human eye and hair color in the Slovenian population and comparison using a Bayesian network and logistic regression model
[PMID 23393597] Replication and Predictive Value of SNPs Associated with Melanoma and Pigmentation Traits in a Southern European Case-Control Study