|(A;A)||0||blue/gray eyes more likely|
|(A;G)||blue/gray eyes less likely|
|(G;G)||blue/gray eyes less likely|
This SNP is 1 of 3 SNPs defining a haplotype that has been studied for association with eye color. The full details on the correspondence between the haplotype and eye color can be found on the OCA2 page.
[PMID 18252221] Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.
[PMID 18252222] A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.
[PMID 18483556] A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.
[PMID 18683857] Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population.
[PMID 19340012] Genome-wide association study of tanning phenotype in a population of European ancestry.
[PMID 19472299] Genotyping of five single nucleotide polymorphisms in the OCA2 and HERC2 genes associated with blue-brown eye color in the Japanese population.
[PMID 20042077] Genetic determinants of hair and eye colours in the Scottish and Danish populations.
[PMID 20221248] Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation.
|qualified_impact||Insufficiently evaluated pharmacogenetic|
[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