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Left eye retinal fundus image self-supervised embedding endophenotype 112

SOX2-OT · rs9838604

What the study found

Who was studied 65,087 British ancestry individuals.

The effect Each copy of the A allele shifted the measure 3.18 higher (95% confidence interval 2.1-4.26); p = 8 × 10−9.

How common The A allele had a frequency of about 37% in the people studied.

Where it sits Chromosome 3, band 3q26.33 — in an intron of SOX2-OT.

What each result means

A/A Two copies of the version the research linked to Left eye retinal fundus image self-supervised embedding endophenotype 112. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to Left eye retinal fundus image self-supervised embedding endophenotype 112. That is a smaller link than two copies.
G/G No copy of the version the research linked to Left eye retinal fundus image self-supervised embedding endophenotype 112. This is the starting point the study compared everyone against.
Source

Questions about rs9838604

What is rs9838604?

rs9838604 is a single position in the genome, in or near the SOX2-OT gene. Published research associates it with left eye retinal fundus image self-supervised embedding endophenotype 112. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs9838604 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 rs9838604 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.

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Left eye retinal fundus image self-supervised embedding endophenotype 112 (rs9838604). MyGeneLog™. https://www.mygenelog.com/variants/rs9838604

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