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Aortic Valve Disease 2, as genome-wide studies have reported it: 28 positions from 1 study. Assembled by code from the GWAS Catalog's records and kept current as positions arrive; every figure is the studies' own.
This is the record of what genome-wide association studies have found for Aortic Valve Disease 2 (the GWAS Catalog's "Aortic valve disease 2"): 28 positions reported by 1 study. The page is put together by code from the catalogue's records and the studies' own listings, and it is rebuilt whenever the records change, so it always reflects them as they stand.
A study. The 28 positions on this page from it: rs1060503154 (TBX5), rs1196005021 (SMAD6), rs1208004863 (TBX5), rs1325349483 (SMAD6), rs1424182433 (SMAD6), rs1555225344 (TBX5), rs1565923835 (TBX5), rs1565927747 (TBX5), and 20 more.
The catalogue maps the 28 positions to 2 genes: TBX5, SMAD6. That mapping says where a position sits, in a gene or beside one — not what it does. For what each study measured, follow its citation above.
Association records say which positions differ, on average, between people with Aortic Valve Disease 2 and people without. They do not describe the condition, say how common it is, or tell anyone what to do, so this page does not either. For a single position, open its variant page: it gives that study's record in fixed sentences, with ClinVar's where there is one.
Aortic Valve Disease 2 is diagnosed by a clinician — not from a genotype. None of the 28 variants on this page is used by any guideline to predict, screen for or diagnose it.
Everything here comes from population-level association records, put together by code. Those records compare groups of people; they do not examine anyone, and they give no guidance on care. For symptoms, testing or treatment, ask a clinician.
Databases, guidelines and references
Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license
Aortic Valve Disease 2. MyGeneLog™. https://www.mygenelog.com/conditions/aortic-valve-disease-2
In the GWAS Catalog, Aortic Valve Disease 2 is filed as "Aortic valve disease 2". Rather than define it, this page lists the genome-wide findings: 28 positions from 1 study, each with its study's sample and citation.
Genome-wide studies have reported 28 associated positions. Each common variant has a small effect, and an association in a population is not a cause in any one person.
The positions lie in or near 2 genes: TBX5, SMAD6. A mapped gene is the catalogue's location for a position, not a mechanism.
No. They are population-level findings of small effect. Aortic Valve Disease 2 is diagnosed by a clinician, and no guideline uses a genotype to predict it.
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