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Article

A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.

American journal of human genetics - 1 Feb 2007

Duffy David L, Montgomery Grant W, Chen Wei, Zhao Zhen Zhen, Le Lien, James Michael R, Hayward Nicholas K, Martin Nicholas G, Sturm Richard A

Abstract excerpt

We have previously shown that a quantitative-trait locus linked to the OCA2 region of 15q accounts for 74% of variation in human eye color. We conducted additional genotyping to clarify the role of the OCA2 locus in the inheritance of eye color and other pigmentary traits associated with skin-cancer risk in white populations. Fifty-eight synonymous and nonsynonymous exonic single-nucleotide polymorphisms (SNPs)...

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Share to Chromosomes, Human, Pair 15
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17236130
DOI: 10.1086/510885
PMCID: PMC1785344

Genes

OCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.PMID 17236130Read ↗

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