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rs1800401 is located in exon 7 of the OCA2 gene at amino acid position 305. The (T) allele encodes the amino acid tryptophan (instead of arginine), and it is one of several SNPs associated with increased odds of having brown or black eye color in Caucasians. One copy of of rs1800401(T) is sufficient for this effect. [PMID 12163334, PMID 15889046; OMIM 203200.0011]
|CLNDBN||Skin/hair/eye pigmentation, variation in, 1|
|CLNSRC||ClinVar OMIM Allelic Variant|
[PMID 17236130] A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.
[PMID 18252222] A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.
[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.
|qualified_impact||Low clinical importance, Likely benign|
|summary||This variant is associated with eye color, as is OCA2 Arg419Gln. Individuals with this variant are more likely to have brown/black eyes (as opposed to blue/gray or green/hazel). Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).|