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Aortic stenosis

SMAD3 · rs17228212

Where this position leads

Condition: Aortic Stenosis

rs17228212 Condition: Aortic Stenosis Aortic Stenosis Condition rs17228212 rs17228212 SMAD3

What the study found

Who was studied 80,823 European ancestry cases, 2,383,572 European ancestry controls, 3,126 African ancestry cases, 141,024 African ancestry controls, 1,403 Hispanic cases, 65,041 Hispanic controls, 1,403 East Asian ancestry cases, 130,260 East Asian ancestry controls, 109 South Asian ancestry cases, 43,841 South Asian ancestry controls.

The effect Each copy of the T allele carried 1.04 times the odds of Aortic stenosis (95% confidence interval 1.02-1.05); p = 4 × 10−9.

How common The T allele had a frequency of about 93% in the people studied.

Where it sits Chromosome 15, band 15q22.33 — in an intron of SMAD3.

What ClinVar records

Classification Benign for Coronary artery disorder; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2022-05-12. ClinVar record 1272319 NM_005902.4(SMAD3):c.533-478T>C

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

C/C Published research associates this genotype with typical/baseline likelihood of Aortic stenosis — no copies of the reported risk allele.
C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Aortic stenosis.
T/T 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 rs17228212

What is rs17228212?

rs17228212 is a single position in the genome, in or near the SMAD3 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 rs17228212 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 rs17228212 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 rs17228212 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 (rs17228212). MyGeneLog™. https://www.mygenelog.com/variants/rs17228212

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