Gene Knowledge Graph
UTC
Standard

Uterine fibroids

ATM · rs4988023

Where this position leads

Condition: Uterine Fibroids

Drug: Metformin

rs4988023 Condition: Uterine Fibroids Uterine Fibroids Condition Drug: Metformin Metformin Drug rs4988023 rs4988023 ATM

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−11, with 1 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

Who was studied 14,905 East Asian ancestry female cases, 69,609 East Asian ancestry female controls, 14,905 Central Asian ancestry female cases, 69,609 Central Asian ancestry female controls, 14,905 South Asian ancestry female cases, 69,609 South Asian ancestry female controls.

The effect Each copy of the A allele shifted the measure 0.119 higher (95% confidence interval 0.084-0.153); p = 3 × 10−11.

Where it sits Chromosome 11, band 11q22.3 — in an intron of ATM.

What each result means

A/A Two copies of the version the research linked to Uterine fibroids. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/C One copy of the version the research linked to Uterine fibroids. That is a smaller link than two copies.
C/C No copy of the version the research linked to Uterine fibroids. This is the starting point the study compared everyone against.
Source
Genome-wide meta-analysis identifies novel risk loci for uterine fibroids within and across multiple ancestry groups
Kim J, Williams A, Noh H, Jasper EA, Jones SH, Jaworski JA, Shuey MM, Ruiz-Narváez EA, Wise LA, Palmer JR, Connolly J, Keaton JM
and 11 more — show all
Denny JC, Khan A, Abbass MA, Rasmussen-Torvik LJ, Kottyan LC, Madhivanan P, Krupp K, Wei WQ, Edwards TL, Velez Edwards DR, Hellwege JN
Nature communications · 2025 · PMID 40050615 · open access

Questions about rs4988023

What is rs4988023?

rs4988023 is a single position in the genome, in or near the ATM gene. Published research associates it with uterine fibroids. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs4988023 linked to?

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

Does rs4988023 affect how medicines work?

ATM carries pharmacogenomic findings for Metformin. That is educational information, not a prescription or a dosing guide. Any decision to start, stop or change a medicine belongs with the clinician or pharmacist managing your treatment.

Does having rs4988023 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 rs4988023 come from?

GWAS Catalog, Nature communications 2025, PMID:40050615. 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.

Uterine fibroids (rs4988023). MyGeneLog™. https://www.mygenelog.com/variants/rs4988023

← See all variants