rs12913832 - The Primary Eye Color Gene
Gene: HERC2/OCA2
rs12913832 is the single most important genetic variant for eye color determination. Located in the HERC2 gene, it acts as a regulatory switch for the OCA2 gene, which controls melanin production in the iris.
Genotype Interpretations
Blue/green eyes - reduced OCA2 expression leads to less iris melanin
Green/hazel eyes - intermediate melanin production. Eye color may shift over lifetime
Brown eyes - full OCA2 expression, high iris melanin
Population Context
The A allele is almost exclusively found in European populations. The ancestral G allele (brown eyes) is near-fixed in African and East Asian populations.
Clinical Relevance
No direct clinical significance. Used in forensic DNA phenotyping (IrisPlex system) to predict eye color from crime scene DNA.
Sources
- [1] Sturm RA et al. (2008) Am J Hum Genet 82:424-31
- [2] Eiberg H et al. (2008) Hum Genet 123:177-87
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