Standard

Aortic stenosis

PDGFRA · rs147558377

Where this position leads

What the study found

Who was studied 22,639 European ancestry female cases, 1,080,289 European ancestry female controls, 22,639 African ancestry female cases, 1,080,289 African ancestry female controls, 22,639 Hispanic or Latin American female cases, 1,080,289 Hispanic or Latin American female controls, 22,639 East Asian ancestry female cases, 1,080,289 East Asian ancestry female controls, 22,639 South Asian ancestry female cases, 1,080,289 South Asian ancestry female controls.

The effect Each copy of the G allele carried 1.09 times the odds of Aortic stenosis (95% confidence interval 1.06-1.12); p = 1 × 10⁻⁸.

How common The G allele had a frequency of about 14% in the people studied.

Where it sits Chromosome 4, band 4q12 — in an intron of PDGFRA.

What each result means

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

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

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

Source

Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction

Small AM, Yang TY, Itoh S, Thériault S, Dufresne L, Kurosawa R, Komuro I, Matsuda K, Vy HMT, Farber-Eger EH, Shaffer LL, Boulier KM

and 89 more — show all

Corey KM, Ramaker ME, Laporte F, Schott JJ, Le Scouarnec S, Singh SA, Sonawane AR, Smith HA, Rafaels N, Ghouse J, Raja AA, Ostrowski SR, Sørensen E, Mikkelsen C, Pedersen OB, Erikstrup C, Ullum H, Sveinbjornsson G, Gudbjartsson DF, Abner E, Lee J, Ganna A, Nowak-Göttl U, Finer S, Schumacher J, Maj C, Al-Kassou B, Nickenig G, Trenkwalder T, Dreβen M, Krane M, Nöthen MM, Moksnes MR, Brumpton BM, Knight S, Knowlton KU, Nadauld L, Debiec R, Musameh MD, Braund PS, Nelson CP, Czuba T, Melander O, Selvaraj MS, Koyama S, Bhukar R, Ruan Y, Ljungberg J, Damrauer SM, Levin MG, Franke A, Berger K, Ruff CT, Melloni GEM, Kamanu FK, Ito K, Do R, Loos RJF, Schunkert H, Wells QS, Shah SH, Le Tourneau T, Messika-Zeitoun D, Gignoux C, Bundgaard H, Larsson SC, Michaëlsson K, Holm H, Helgadottir A, Esko T, van Heel DA, Mathieu P, Samani NJ, Smith JG, Söderberg S, Rader DJ, Marston NA, Sabatine MS, Pasaniuc B, Cho K, Wilson PWF, O'Donnell CJ, Stefansson K, Bossé Y, Aikawa E, Engert JC, Peloso GM, Natarajan P, Thanassoulis G

Colorado Center for Personalized Medicine · DBDS Genomic Consortium · Estonian Biobank Research Team · Genes & Health Research Team

Nature genetics · 2026 · PMID 41419686 · open access

Questions about rs147558377

What is rs147558377?

rs147558377 is a single position in the genome, in or near the PDGFRA 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 rs147558377 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 rs147558377 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 rs147558377 come from?

GWAS Catalog, Nature genetics 2026, PMID:41419686. 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 (rs147558377). MyGeneLog™. https://www.mygenelog.com/variants/rs147558377

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