rs1805009, known as Asp294His or D294H and located in the MC1R gene, is the most common variant associated with red hair (redheads) and low tanning in one study. [PMID 7581459] Reported as i3002507 by 23andMe in January 2015.
The risk allele is rs1805009(C), compared with the wild-type rs1805009(G) allele.
See also OMIM 155555.0001
blog about designing melanocortin analogs specific to these genotypes.
|Disease||Skin/hair/eye pigmentation 2|
|CLNDBN||Skin/hair/eye pigmentation 2, red hair/fair skin|
|CLNSRC||ClinVar OMIM Allelic Variant|
[PMID 17999355] A genomewide association study of skin pigmentation in a South Asian population.
[PMID 20585627] Web-based, participant-driven studies yield novel genetic associations for common traits.
[PMID 20670983] The Multiple Sclerosis Severity Score: associations with MC1R single nucleotide polymorphisms and host response to ultraviolet radiation.