Standard

Aortic stenosis

GLIS1 · rs2141082

Where this position leads

What the study found

Who was studied 55,795 European ancestry male cases, 1,470,806 European ancestry male controls, 55,795 African ancestry male cases, 1,470,806 African ancestry male controls, 55,795 Hispanic or Latin American male cases, 1,470,806 Hispanic or Latin American male controls, 55,795 East Asian ancestry male cases, 1,470,806 East Asian ancestry male controls, 55,795 South Asian ancestry male cases, 1,470,806 South Asian ancestry male controls.

The effect Each copy of the C allele carried 1.06 times the odds of Aortic stenosis (95% confidence interval 1.04-1.07); p = 3 × 10⁻¹⁴.

How common The C allele had a frequency of about 72% in the people studied.

Where it sits Chromosome 1, band 1p32.3 — in an intron of GLIS1.

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

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 rs2141082

What is rs2141082?

rs2141082 is a single position in the genome, in or near the GLIS1 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 rs2141082 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 rs2141082 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 rs2141082 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 (rs2141082). MyGeneLog™. https://www.mygenelog.com/variants/rs2141082

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