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Descending aorta distensibility

NUMBL · rs113228202

What the study found

Who was studied 33,907 European or unknown ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.175 lower (95% confidence interval 0.12-0.23); p = 5 × 10−9.

How common The G allele had a frequency of about 99% in the people studied.

Where it sits Chromosome 19, band 19q13.2 — in an intron of NUMBL.

What each result means

A/A No copy of the version the research linked to Descending aorta distensibility. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Descending aorta distensibility. That is a smaller link than two copies.
G/G Two copies of the version the research linked to Descending aorta distensibility. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs113228202

What is rs113228202?

rs113228202 is a single position in the genome, in or near the NUMBL gene. Published research associates it with descending aorta distensibility. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs113228202 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 rs113228202 come from?

GWAS Catalog, Journal of the American College of Cardiology 2023, PMID:37019578. 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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Descending aorta distensibility (rs113228202). MyGeneLog™. https://www.mygenelog.com/variants/rs113228202

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