Rs1800407

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]

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.

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.