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Left eye retinal fundus image self-supervised embedding endophenotype 56

OCA2 · rs11638265

What the study found

Who was studied 65,087 British ancestry individuals.

The effect Each copy of the G allele shifted the measure 5.98 higher (95% confidence interval 4.86-7.09); p = 1 × 10−25.

How common The G allele had a frequency of about 28% in the people studied.

Where it sits Chromosome 15, band 15q13.1 — in an intron of OCA2.

What ClinVar records

Classification Benign; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2021-06-19. ClinVar record 1277786 NM_000275.3(OCA2):c.1784+161C>T

What this is ClinVar's aggregate record for this position (as of its 2026-10-12 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 No copy of the version the research linked to Left eye retinal fundus image self-supervised embedding endophenotype 56. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Left eye retinal fundus image self-supervised embedding endophenotype 56. That is a smaller link than two copies.
G/G Two copies of the version the research linked to Left eye retinal fundus image self-supervised embedding endophenotype 56. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs11638265

What is rs11638265?

rs11638265 is a single position in the genome, in or near the OCA2 gene. Published research associates it with left eye retinal fundus image self-supervised embedding endophenotype 56. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs11638265 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 rs11638265 come from?

GWAS Catalog, PLoS genetics 2024, PMID:38728357. 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.

Left eye retinal fundus image self-supervised embedding endophenotype 56 (rs11638265). MyGeneLog™. https://www.mygenelog.com/variants/rs11638265

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