|| common in clinvar
|?|| (G;G) (G;T) (T;T) ||28|
, 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
[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