Standard

Hypertrophic cardiomyopathy

SYNPO2L · rs3740293

Where this position leads

Condition: Hypertrophic Cardiomyopathy

rs3740293 Condition: Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy Condition rs3740293 rs3740293 SYNPO2L

What the study found

Who was studied 1,733 European ancestry cases, 6,628 European ancestry controls; replicated in 2,694 European ancestry cases, 47,486 European ancestry controls.

The effect The reported allele is C; the catalogue records no effect size ; p = 3 × 10−11.

How common The C allele had a frequency of about 15% in the people studied.

Where it sits Chromosome 10, band 10q22.2 — in the 3′ untranslated region of SYNPO2L.

What each result means

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

Questions about rs3740293

What is rs3740293?

rs3740293 is a single position in the genome, in or near the SYNPO2L gene. Published research associates it with hypertrophic cardiomyopathy. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs3740293 linked to?

On MyGeneLog this position is linked to Hypertrophic Cardiomyopathy. The research behind each link, and its sources, are set out on that condition page.

Does having rs3740293 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 rs3740293 come from?

GWAS Catalog, Nature genetics 2021, PMID:33495596. 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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Hypertrophic cardiomyopathy (rs3740293). MyGeneLog™. https://www.mygenelog.com/variants/rs3740293

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