|(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|
rs1800407 is located in exon 13 of the OCA2 gene at amino acid position 419, and it is therefore also known as the R419Q variant. The (A) allele encodes the amino acid glutamine (instead of arginine), and it is associated with increased odds of having green/hazel eye color in some Caucasian populations. One copy of of rs1800407(A) is sufficient for this effect. [PMID 12163334, PMID 15889046; OMIM 203200.0012]
[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 Oculocutaneous albinism|
|CLNDBN||Skin/hair/eye pigmentation, variation in, 1 not specified Oculocutaneous albinism|
|CLNSRC||OMIM Allelic Variant UniProtKB (protein)|
|CLNACC||RCV000001014.6, RCV000252408.2, RCV000397427.1,|
[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.
[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