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Hypertension

AMBRA1 · rs113446918

Where this position leads

Condition: Pulmonary Arterial Hypertension

rs113446918 Condition: Pulmonary Arterial Hypertension Pulmonary Arterial Hypertension Condition rs113446918 rs113446918 AMBRA1

What the study found

Who was studied 394,626 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.0595 higher (95% confidence interval 0.043-0.076); p = 5 × 10−15.

How common The T allele had a frequency of about 11% in the people studied.

Where it sits Chromosome 11, band 11p11.2 — in an intron of AMBRA1.

What each result means

C/C Published research associates this genotype with typical/baseline likelihood of Hypertension — 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 Hypertension.
T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Hypertension compared to the general population.
Source
A scalable variational inference approach for increased mixed-model association power
Loya H, Kalantzis G, Cooper F, Palamara PF
Nature genetics · 2025 · PMID 39789286 · open access

Questions about rs113446918

What is rs113446918?

rs113446918 is a single position in the genome, in or near the AMBRA1 gene. Published research associates it with hypertension. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs113446918 linked to?

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

Does having rs113446918 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 rs113446918 come from?

GWAS Catalog, Nature genetics 2025, PMID:39789286. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Hypertension (rs113446918). MyGeneLog™. https://www.mygenelog.com/variants/rs113446918

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