Standard

Aortic stenosis

near ATP7BP1 · rs177990

Where this position leads

Condition: Aortic Stenosis

rs177990 Condition: Aortic Stenosis Aortic Stenosis Condition rs177990 rs177990 near ATP7BP1

What the study found

Who was studied 45,352 European ancestry cases, 1,938,877 European ancestry controls.

The effect Each copy of the C allele shifted the measure 0.0254 higher (95% confidence interval 0.017-0.033); p = 5 × 10−10.

How common The C allele had a frequency of about 74% in the people studied.

Where it sits Chromosome 18, band 18q11.2 — between genes, 62.1 kb from ATP7BP1.

What each result means

C/C 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.
C/T One copy of the version the research linked to Aortic stenosis. That is a smaller link than two copies.
T/T No copy of the version the research linked to Aortic stenosis. This is the starting point the study compared everyone against.
Source

Questions about rs177990

What is rs177990?

rs177990 is a single position in the genome, in or near the near ATP7BP1 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 rs177990 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 rs177990 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 rs177990 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 (rs177990). MyGeneLog™. https://www.mygenelog.com/variants/rs177990

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