rs12913832 is a SNP near the OCA2 gene that may be functionally linked to blue or brown eye color, due to a lowering of promoter activity of the OCA2 gene. Blue eye color is associated with the rs12913832(G;G) genotype.[PMID 18172690, PMID 18252222]
For green versus blue eye color rs12913832 in OCA2/HERC2 has a score of 51.5 and an estimated allelic OR of 8.43 . The SNP rs1667394 in this same region has an estimated OR of (4.85–10.06). 10.1371/journal.pgen.1000993rs12913832 is also part of a haplotype spanning 166kB on chromosome 15, defined by 13 SNPs listed below, that is found in 97% of all Caucasians with blue eyes. In this haplotype, variations in rs1129038 and rs12913832 are relatively common in Caucasians though rare among other racial groups.[PMID 18172690]
[PMID 18650849] rs12913832-T (brown eye) homozygotes compared to rs12913832-C (blue eye). correlations with skin, eye, and hair color variation.
|Condition||Black vs. red hair color|
|95% CI||0.40-0.48) decrease in hair color scor|
[PMID 19278018] Brief communication: Blue eyes in lemurs and humans: Same phenotype, different genetic mechanism
[PMID 19208107] Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype.
|Trait||Eye color traits|
|Title||Digital quantification of human eye color highlights genetic association of three new loci|
|Odds Ratio||None None|
|Title||Web-based, participant-driven studies yield novel genetic associations for common traits|
|Odds Ratio||8.43 [NR]|
[PMID 20457063] Human eye colour and HERC2, OCA2 and MATP[PMID 22615734] The Classical Pink-Eyed Dilution Mutation Affects Angiogenic Responsiveness
[PMID 22234890] HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter.
[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 19619260] Genetics of human iris colour and patterns.
[PMID 19668368] Ancestry analysis in the 11-M Madrid bomb attack investigation.
[PMID 19711812] [Genetic analysis of the putative remains of general Wladyslaw Sikorski].
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|qualified_impact||Insufficiently evaluated pathogenic|
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