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Endometriosis

NEMP1 · rs4039

Where this position leads

Condition: Endometriosis

rs4039 Condition: Endometriosis Endometriosis Condition rs4039 rs4039 NEMP1

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 0.0125 higher (95% confidence interval 0.0087-0.0164); p = 1 × 10−10.

How common The T allele had a frequency of about 64% in the people studied.

Where it sits Chromosome 12, band 12q13.3 — in the 3′ untranslated region of NEMP1.

What each result means

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

Questions about rs4039

What is rs4039?

rs4039 is a single position in the genome, in or near the NEMP1 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 rs4039 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 rs4039 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 rs4039 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 (rs4039). MyGeneLog™. https://www.mygenelog.com/variants/rs4039

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