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Eye color

HERC2 / OCA2 · rs12913832

Where this position leads

Solid lines are connections this site curates. Dashed lines mean the two ends share a research paper — worth knowing, and not a claim that one explains the other.

What ClinVar records

Classification association for SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; no assertion criteria provided (0 of 4 stars, 1 submitter), last evaluated 2018-02-13. ClinVar record 4745 NM_004667.6(HERC2):c.13272+874T>C

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

A/A Published research associates this genotype with brown eye color — reduced OCA2 expression allows more melanin production in the iris.

A/G Published research associates this genotype with intermediate eye color (often green or hazel), though many other genes also contribute.

G/G Published research associates this genotype with blue eye color — this variant reduces OCA2 gene expression, lowering melanin production in the iris. This single variant is the single strongest predictor of blue vs. brown eyes, though it is not the only gene involved.

Source

Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression

Eiberg H, Troelsen J, Nielsen M, Mikkelsen A, Mengel-From J, Kjaer KW, Hansen L

Human genetics · 2008 · PMID 18172690

What people read about alongside this

Skin, sun and hair12 Vitamins and nutrient levels1

Papers in Europe PMC whose title or abstract names both this rsID and that subject. A shared paper means somebody wrote about the two together — it is not a claim that this position explains the subject.

Questions about rs12913832

What is rs12913832?

rs12913832 is a single position in the genome, in or near the HERC2 / OCA2 gene. Published research associates it with eye color. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs12913832 linked to?

On MyGeneLog this position is linked to Eye Color and Pigmentation. The research behind each link, and its sources, are set out on that condition page.

What do people read about alongside rs12913832?

Subjects that appear in the title or abstract of the same papers as this rsID include skin, sun and hair (12 papers), vitamins and nutrient levels (1 papers). A shared paper means somebody wrote about the two together; it is not a claim that this position explains the topic.

Does having rs12913832 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs12913832 come from?

Eiberg et al. 2008, Human Genetics — blue eye color in humans linked to a single HERC2/OCA2 variant. PMID 18172690. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Eye color (rs12913832). MyGeneLog™. https://www.mygenelog.com/variants/rs12913832

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