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Calcific aortic valve stenosis

PRRX1 · rs1016819

Where this position leads

Condition: Aortic Stenosis

rs1016819 Condition: Aortic Stenosis Aortic Stenosis Condition rs1016819 rs1016819 PRRX1

What the study found

Who was studied 14,819 European ancestry cases, 941,863 European ancestry controls.

The effect The reported allele is G; the catalogue records no effect size ; p = 1 × 10−14.

Where it sits Chromosome 1, band 1q24.2 — in an intron of PRRX1.

What each result means

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

Questions about rs1016819

What is rs1016819?

rs1016819 is a single position in the genome, in or near the PRRX1 gene. Published research associates it with calcific aortic valve 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 rs1016819 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 rs1016819 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 rs1016819 come from?

GWAS Catalog, Nature communications 2024, PMID:38494474. 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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Calcific aortic valve stenosis (rs1016819). MyGeneLog™. https://www.mygenelog.com/variants/rs1016819

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