|| common in complete genomics
|?|| (A;A) (A;G) (G;G) ||28|
Influences appearance gnxp
10.1371/journal.pgen.1000867 associated with skin pigmentation in two samples of East Asian ancestry and it confirms previous evidence indicating that evolution towards light skin occurred, at least in part, independently in Europe and East Asia. The OCA2 gene has been under positive selection in Europe and East Asia, but different alleles have been selected in each region.
23andMe blog each rs1800414(C) was associated with a 1.3 melanin unit reduction in skin pigmentation. This SNP accounts for 9% of the variation in skin color seen in the study population.
[PMID 22065085] A global view of the OCA2-HERC2 region and pigmentation
[PMID 17236130] A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.
[PMID 18392143] Interactions between SNP alleles at multiple loci contribute to skin color differences between caucasoid and mongoloid subjects.
[PMID 20221248] Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation.
|| Low clinical importance, Likely benign
|| Associated with lighter skin pigmentation in East Asian populations.