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Left eye retinal fundus image self-supervised embedding endophenotype 21

OCA2 · rs3884517

What the study found

Who was studied 65,087 British ancestry individuals.

The effect Each copy of the C allele shifted the measure 3.5 lower (95% confidence interval 2.32-4.68); p = 7 × 10−9.

How common The C allele had a frequency of about 29% in the people studied.

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

What each result means

C/C Two copies of the version the research linked to Left eye retinal fundus image self-supervised embedding endophenotype 21. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to Left eye retinal fundus image self-supervised embedding endophenotype 21. That is a smaller link than two copies.
T/T No copy of the version the research linked to Left eye retinal fundus image self-supervised embedding endophenotype 21. This is the starting point the study compared everyone against.
Source

Questions about rs3884517

What is rs3884517?

rs3884517 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 21. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs3884517 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 rs3884517 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

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Left eye retinal fundus image self-supervised embedding endophenotype 21 (rs3884517). MyGeneLog™. https://www.mygenelog.com/variants/rs3884517

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