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Aortic aneurysm

FBN1 · rs1036476

Where this position leads

Condition: Abdominal Aortic Aneurysm

rs1036476 Condition: Abdominal Aortic Aneurysm Abdominal Aortic Aneurysm Condition rs1036476 rs1036476 FBN1

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−9, with 1 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 3,230 European ancestry cases, 475,964 European ancestry controls, 1,155 East Asian ancestry cases, 173,601 East Asian ancestry controls.

The effect Each copy of the C allele shifted the measure 0.289 higher (95% confidence interval 0.2-0.38); p = 9 × 10−10.

Where it sits Chromosome 15, band 15q21.1 — in an intron of FBN1.

What each result means

C/C Two copies of the version the research linked to Aortic aneurysm. 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 aneurysm. That is a smaller link than two copies.
T/T No copy of the version the research linked to Aortic aneurysm. This is the starting point the study compared everyone against.
Source

Questions about rs1036476

What is rs1036476?

rs1036476 is a single position in the genome, in or near the FBN1 gene. Published research associates it with aortic aneurysm. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs1036476 linked to?

On MyGeneLog this position is linked to Abdominal Aortic Aneurysm. The research behind each link, and its sources, are set out on that condition page.

Does having rs1036476 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 rs1036476 come from?

GWAS Catalog, Nature genetics 2021, PMID:34594039. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Aortic aneurysm (rs1036476). MyGeneLog™. https://www.mygenelog.com/variants/rs1036476

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