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Bicuspid aortic valve

PALMD · rs7543130

Where this position leads

Condition: Bicuspid Aortic Valve

What the study found

Who was studied 452 European ancestry cases, 1,834 European ancestry controls; replicated in 1,679 cases, 894 controls.

The effect The reported allele is A; the catalogue records no effect size ; p = 2 × 10⁻⁸.

How common The A allele had a frequency of about 49% in the people studied.

Where it sits Chromosome 1, band 1p21.2 — in an intron of LINC01708.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Bicuspid aortic valve compared to the general population.

A/C Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Bicuspid aortic valve.

C/C Published research associates this genotype with typical/baseline likelihood of Bicuspid aortic valve — no copies of the reported risk allele.

Source

Defects in the Exocyst-Cilia Machinery Cause Bicuspid Aortic Valve Disease and Aortic Stenosis

Fulmer D, Toomer K, Guo L, Moore K, Glover J, Moore R, Stairley R, Lobo G, Zuo X, Dang Y, Su Y, Fogelgren B

and 7 more — show all

Gerard P, Chung D, Heydarpour M, Mukherjee R, Body SC, Norris RA, Lipschutz JH

Circulation · 2019 · PMID 31387361

Questions about rs7543130

What is rs7543130?

rs7543130 is a single position in the genome, in or near the PALMD gene. Published research associates it with bicuspid aortic valve. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs7543130 linked to?

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

Does having rs7543130 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 rs7543130 come from?

GWAS Catalog, Circulation 2019, PMID:31387361. 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.

Bicuspid aortic valve (rs7543130). MyGeneLog™. https://www.mygenelog.com/variants/rs7543130

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