Standard

Aortic stenosis

near RN7SKP183 · rs5991029

Where this position leads

What the study found

Who was studied 69,877 European ancestry cases, 2,308,355 European ancestry controls, 69,877 African ancestry cases, 2,308,355 African ancestry controls, 69,877 Hispanic or Latin American cases, 2,308,355 Hispanic or Latin American controls, 69,877 East Asian ancestry cases, 2,308,355 East Asian ancestry controls, 69,877 South Asian ancestry cases, 2,308,355 South Asian ancestry controls.

The effect Each copy of the A allele carried 1.04 times the odds of Aortic stenosis (95% confidence interval 1.03-1.05); p = 1 × 10⁻¹².

How common The A allele had a frequency of about 84% in the people studied.

Where it sits Chromosome X, band Xp22.12 — between genes, 65.2 kb from RN7SKP183.

What each result means

A/A 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.

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

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

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 rs5991029

What is rs5991029?

rs5991029 is a single position in the genome, in or near the near RN7SKP183 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 rs5991029 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 rs5991029 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 rs5991029 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 (rs5991029). MyGeneLog™. https://www.mygenelog.com/variants/rs5991029

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