Standard

Endometriosis

near TSHZ3 · rs384114

Where this position leads

Condition: Endometriosis and Depression: Shared Genetics

What the study found

Who was studied 2,481 African ancestry cases, 54,671 African ancestry controls, 1,752 Admixed American ancestry cases, 37,871 Admixed American ancestry controls, 2,044 East Asian ancestry cases, 87,723 East Asian ancestry controls, 99,407 European ancestry cases, 1,093,534 European ancestry controls, 185 Central/South Asian or Middle Eastern ancestry cases, 8,932 Central/South Asian or Middle Eastern ancestry controls.

The effect Each copy of the T allele shifted the measure 0.0116 higher (95% confidence interval 0.0078-0.0153); p = 2 × 10⁻⁹.

How common The T allele had a frequency of about 40% in the people studied.

Where it sits Chromosome 19, band 19q12 — between genes, 18.9 kb from TSHZ3-AS1.

What each result means

C/C Published research associates this genotype with typical/baseline likelihood of 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 Endometriosis.

T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of 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 rs384114

What is rs384114?

rs384114 is a single position in the genome, in or near the near TSHZ3 gene. Published research associates it with 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 rs384114 linked to?

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

Does having rs384114 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 rs384114 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.

Endometriosis (rs384114). MyGeneLog™. https://www.mygenelog.com/variants/rs384114

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