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Ascending aorta diameter

CCDC197 · rs11848552

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 read. Links to conditions, drugs and the senses appear automatically if we write them.

What the study found

Who was studied 32,215 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.05 lower; p = 4 × 10⁻¹⁰.

How common The A allele had a frequency of about 40% in the people studied.

Where it sits Chromosome 14, band 14q32.12 — in an intron of CCDC197.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Ascending aorta diameter compared to the general population.

A/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Ascending aorta diameter.

T/T Published research associates this genotype with typical/baseline likelihood of Ascending aorta diameter — no copies of the reported risk allele.

Source

High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease

Tcheandjieu C, Xiao K, Tejeda H, Lynch JA, Ruotsalainen S, Bellomo T, Palnati M, Judy R, Klarin D, Kember RL, Verma S, Palotie A

and 8 more — show all

Daly M, Ritchie M, Rader DJ, Rivas MA, Assimes T, Tsao P, Damrauer S, Priest JR

Regeneron Genetics Center · VA Million Veterans Program · FinnGen Project

Nature genetics · 2022 · PMID 35637384

Questions about rs11848552

What is rs11848552?

rs11848552 is a single position in the genome, in or near the CCDC197 gene. Published research associates it with ascending aorta diameter. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs11848552 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 rs11848552 come from?

GWAS Catalog, Nature genetics 2022, PMID:35637384. 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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Ascending aorta diameter (rs11848552). MyGeneLog™. https://www.mygenelog.com/variants/rs11848552

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