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Retinal arteriolar tortuosity

near RPS27P10 · rs12694223

What the study found

Who was studied 52,798 European ancestry individuals; replicated in 4,987 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.022 higher (95% confidence interval 0.016-0.028); p = 2 × 10−15.

How common The T allele had a frequency of about 47% in the people studied.

Where it sits Chromosome 2, band 2q34 — between genes, 131.8 kb from RPS27P10.

What each result means

C/C No copy of the version the research linked to Retinal arteriolar tortuosity. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Retinal arteriolar tortuosity. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Retinal arteriolar tortuosity. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs12694223

What is rs12694223?

rs12694223 is a single position in the genome, in or near the near RPS27P10 gene. Published research associates it with retinal arteriolar tortuosity. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs12694223 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 rs12694223 come from?

GWAS Catalog, PLoS genetics 2023, PMID:36757925. 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.

Retinal arteriolar tortuosity (rs12694223). MyGeneLog™. https://www.mygenelog.com/variants/rs12694223

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