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Self-reported endometriosis

RERG · rs12317475

Where this position leads

What the study found

Who was studied 50,867 European ancestry cases, 528,391 European ancestry controls.

The effect Each copy of the T allele shifted the measure 0.0209 lower (95% confidence interval 0.014-0.027); p = 4 × 10⁻¹⁰.

How common The T allele had a frequency of about 65% in the people studied.

Where it sits Chromosome 12, band 12p12.3 — inside RERG.

What each result means

C/C Published research associates this genotype with typical/baseline likelihood of Self-reported endometriosis — no copies of the reported risk allele.

C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Self-reported endometriosis.

T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Self-reported endometriosis compared to the general population.

Source

Multi-ancestry genome-wide association and integrated multi-omics analyses of endometriosis and its clinical manifestations

Koller D, He J, Løkhammer S, Aranda S, Qiu D, Davtian D, Chen Q, Xu Z, Mao Z, Friligkou E, Karaca S, Cormand B

and 5 more — show all

Flores I, Altmäe S, Mitjans M, Cabrera-Mendoza B, Polimanti R

Nature genetics · 2026 · PMID 42056605

Questions about rs12317475

What is rs12317475?

rs12317475 is a single position in the genome, in or near the RERG gene. Published research associates it with self-reported endometriosis. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs12317475 linked to?

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

Does having rs12317475 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 rs12317475 come from?

GWAS Catalog, Nature genetics 2026, PMID:42056605. 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.

Self-reported endometriosis (rs12317475). MyGeneLog™. https://www.mygenelog.com/variants/rs12317475

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