Standard

Aortic stenosis

COL4A2 · rs1983931

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 G allele carried 1.04 times the odds of Aortic stenosis (95% confidence interval 1.02-1.05); p = 3 × 10⁻⁸.

How common The G allele had a frequency of about 62% in the people studied.

Where it sits Chromosome 13, band 13q34 — in an intron of COL4A2.

What ClinVar records

Classification Benign; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2018-06-29. ClinVar record 1238517 NM_001846.4(COL4A2):c.1978+149G>A

What this is ClinVar's aggregate record for this position (as of its 2026-10-05 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

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

A/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 rs1983931

What is rs1983931?

rs1983931 is a single position in the genome, in or near the COL4A2 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 rs1983931 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 rs1983931 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 rs1983931 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 (rs1983931). MyGeneLog™. https://www.mygenelog.com/variants/rs1983931

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