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Who was studied at least 9,365 European or unknown ancestry cases, at least 946,368 European or unknown ancestry controls (MTAG boosted by left ventricular trait samples); replicated in 13,258 European, African, Admixed American or unknown ancestry cases, 1,435,287 European, African, Admixed American or unknown ancestry controls.
The effect
Each copy of the A allele shifted the measure 0.144 lower; p = 4 × 10−13.
How common The A allele had a frequency of about 14% in the people studied.
Where it sits Chromosome 7, band 7q32.1 — in an intron of CCDC136.
What each result means
A/ATwo copies of the version the research linked to Dilated cardiomyopathy (MTAG). That is the strongest link of the three results. A link in a study is not a diagnosis.
A/COne copy of the version the research linked to Dilated cardiomyopathy (MTAG). That is a smaller link than two copies.
C/CNo copy of the version the research linked to Dilated cardiomyopathy (MTAG). This is the starting point the study compared everyone against.
Nature genetics · 2024 · PMID 39572784 · open access
Questions about rs4731517
What is rs4731517?
rs4731517 is a single position in the genome, in or near the CCDC136 gene. Published research associates it with dilated cardiomyopathy (mtag). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs4731517 linked to?
On MyGeneLog this position is linked to Dilated Cardiomyopathy. The research behind each link, and its sources, are set out on that condition page.
Does having rs4731517 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 rs4731517 come from?
GWAS Catalog, Nature genetics 2024, PMID:39572784. 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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