|(A;A)||1||green/hazel/brown/black eyes more likely|
|(A;G)||1||green/hazel/brown/black eyes more likely|
|(G;G)||1||blue/gray eyes more possible|
[PMID 18093281] According to tree scanning analysis, the proportion of eye colour variation explained by this nucleotide position is merely 4%. Thus, additional variation present in the OCA2 gene and perhaps some other pigment related genes must be taken into account in order to explain the high phenotypic variation in iris colour.
[PMID 18252222] Among rs12913832(A;A) individuals, the penetrance for green/hazel eyes was 50%, 21%, and 6%, respectively, for rs1800407(A;A), (A;G), and (G;G) genotypes, respectively. R419Q is also a significant risk factor (odd ratio 1.27, p=0.0006) for cutaneous malignant melanoma.[PMID 19208107] Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype.
[PMID 19320733] Pigmentation-related genes and their implication in malignant melanoma susceptibility.[PMID 20457063] Human eye colour and HERC2, OCA2 and MATP
[PMID 22065085] A global view of the OCA2-HERC2 region and pigmentation
|Disease||Skin/hair/eye pigmentation not specified|
|CLNDBN||Skin/hair/eye pigmentation, variation in, 1 not specified|
|CLNSRC||OMIM Allelic Variant UniProtKB (protein)|
[PMID 17236130] A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.
[PMID 19384953] Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.
[PMID 20042077] Genetic determinants of hair and eye colours in the Scottish and Danish populations.
[PMID 20463881] Digital quantification of human eye color highlights genetic association of three new loci.
[PMID 20585627] Web-based, participant-driven studies yield novel genetic associations for common traits.
|qualified_impact||Low clinical importance, Likely benign|
|summary||This variant is associated with eye color, as is OCA2 R305W. Individuals with this variant are reported to be more likely to have green/hazel eyes as opposed to blue/gray eyes. Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).|
[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 25142205] Assessment of high resolution melting analysis as a potential SNP genotyping technique in forensic casework