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Ascending aorta diameter

CCNE1 · rs3218070

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 38,372 European or unknown ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.0405 lower (95% confidence interval 0.028-0.053); p = 2 × 10⁻¹⁰.

How common The C allele had a frequency of about 60% in the people studied.

Where it sits Chromosome 19, band 19q12 — in an intron of CCNE1.

What each result means

C/C 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.

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

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

Source

The Genetic Determinants of Aortic Distention

Pirruccello JP, Rämö JT, Choi SH, Chaffin MD, Kany S, Nekoui M, Chou EL, Jurgens SJ, Friedman SF, Juric D, Stone JR, Batra P

and 4 more — show all

Ng K, Philippakis AA, Lindsay ME, Ellinor PT

Journal of the American College of Cardiology · 2023 · PMID 37019578

Questions about rs3218070

What is rs3218070?

rs3218070 is a single position in the genome, in or near the CCNE1 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 rs3218070 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 rs3218070 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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Ascending aorta diameter (rs3218070). MyGeneLog™. https://www.mygenelog.com/variants/rs3218070

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