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Aortic stenosis

FBN2 · rs80299601

Where this position leads

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10⁻⁷, 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 45,352 European ancestry cases, 1,938,877 European ancestry controls.

The effect Each copy of the T allele shifted the measure 0.0235 higher (95% confidence interval 0.015-0.032); p = 5 × 10⁻⁸.

How common The T allele had a frequency of about 77% in the people studied.

Where it sits Chromosome 5, band 5q23.3 — in an intron of FBN2.

What each result means

C/C No copy of the version the research linked to Aortic stenosis. This is the starting point the study compared everyone against.

C/T One copy of the version the research linked to Aortic stenosis. That is a smaller link than two copies.

T/T Two copies of the version the research linked to Aortic stenosis. That is the strongest link of the three results. A link in a study is not a diagnosis.

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 rs80299601

What is rs80299601?

rs80299601 is a single position in the genome, in or near the FBN2 gene. Published research associates it with aortic stenosis. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs80299601 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 rs80299601 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 rs80299601 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

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Aortic stenosis (rs80299601). MyGeneLog™. https://www.mygenelog.com/variants/rs80299601

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