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Aortic stenosis (MTAG)

NOTCH4 · rs3131295

Where this position leads

What the study found

Who was studied 205,483 European ancestry individuals (MTAG effective sample size boosted by aortic valve function samples).

The effect Each copy of the G allele shifted the measure 0.0243 lower (95% confidence interval 0.018-0.031); p = 5 × 10⁻¹³.

How common The G allele had a frequency of about 60% in the people studied.

Where it sits Chromosome 6, band 6p21.32 — in an intron of NOTCH4.

What each result means

A/A Published research associates this genotype with typical/baseline likelihood of Aortic stenosis (MTAG) — no copies of the reported risk allele.

A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Aortic stenosis (MTAG).

G/G Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Aortic stenosis (MTAG) compared to the general population.

Source

Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk

Kany S, Rämö JT, Hou C, Jurgens SJ, Khurshid S, Nauffal V, Cunningham JW, Lau ES, Koyama S, Ho JE, Olgin JE, Elmariah S

and 4 more — show all

Palotie A, Lindsay ME, Ellinor PT, Pirruccello JP

FinnGen

Nature genetics · 2026 · PMID 41419685 · open access

Questions about rs3131295

What is rs3131295?

rs3131295 is a single position in the genome, in or near the NOTCH4 gene. Published research associates it with aortic stenosis (mtag). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs3131295 linked to?

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

Does having rs3131295 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 rs3131295 come from?

GWAS Catalog, Nature genetics 2026, PMID:41419685. 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.

Aortic stenosis (MTAG) (rs3131295). MyGeneLog™. https://www.mygenelog.com/variants/rs3131295

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