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Standard
Aortic stenosis
IPO9-AS1 · rs650720
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Stands on its own.
Nothing else here links to this position yet — but the page above is the point: what the
research found, what each genotype means, and where it came from, in language you can
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Strength of the evidence
2 / 4
Its strongest genetic-study result is p = 10−35, with 4 associations in the GWAS Catalog.
How this is scored
4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.
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 1.07 times the odds of Aortic stenosis (95% confidence interval 1.06-1.08); p = 2 × 10−35.
How common The T allele had a frequency of about 33% in the people studied.
Where it sits Chromosome 1, band 1q32.1 — in an intron of IPO9-AS1.
How common each version is
GT
By ancestry gnomAD
East Asian
G 68.5% · T 31.6%
European (non-Finnish)
G 60.2% · T 39.8%
African / African American
G 84.8% · T 15.2%
South Asian
G 74.8% · T 25.2%
Admixed American (Latino)
G 57.0% · T 43.0%
Middle Eastern
G 79.2% · T 20.8%
Finnish
G 61.3% · T 38.7%
Ashkenazi Jewish
G 54.8% · T 45.2%
The share of all copies of this position that are each version. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.
What each result means
G/GNo copy of the version the research linked to Aortic stenosis. This is the starting point the study compared everyone against.
G/TOne copy of the version the research linked to Aortic stenosis. That is a smaller link than two copies.
T/TTwo 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.
DNA databases also record a third, rare version at this position, carried on fewer than one in a hundred copies of the DNA. The three results above cover the two common versions only.
Nature genetics · 2026 · PMID 41419686 · open access
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Quoting this page
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