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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
read. Links to conditions, drugs and the senses appear automatically if we write them.
What the study found
Who was studied 33,637 European ancestry individuals.
The effect
Each copy of the G allele shifted the measure 0.0432 lower (95% confidence interval 0.029-0.057); p = 4 × 10−10.
How common The G allele had a frequency of about 69% in the people studied.
Where it sits Chromosome 2, band 2q37.3 — between genes, 5.1 kb from COL6A3.
What each result means
A/ANo copy of the version the research linked to Ascending thoracic aortic diameter. This is the starting point the study compared everyone against.
A/GOne copy of the version the research linked to Ascending thoracic aortic diameter. That is a smaller link than two copies.
G/GTwo copies of the version the research linked to Ascending thoracic aortic diameter. That is the strongest link of the three results. A link in a study is not a diagnosis.
Nature genetics · 2022 · PMID 34837083 · open access
Questions about rs12052878
What is rs12052878?
rs12052878 is a single position in the genome, in or near the near COL6A3 gene. Published research associates it with ascending thoracic aortic diameter. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs12052878 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 rs12052878 come from?
GWAS Catalog, Nature genetics 2022, PMID:34837083. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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