Standard

Hypertrophic cardiomyopathy

near OR5B12 · rs546759453

Where this position leads

Condition: Hypertrophic Cardiomyopathy

rs546759453 Condition: Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy Condition rs546759453 rs546759453 near OR5B12

What the study found

Who was studied 507 European ancestry cases, 489,220 European ancestry controls, 383 East Asian ancestry cases, 177,745 East Asian ancestry controls.

The effect Each copy of the A allele shifted the measure 53.8 higher (95% confidence interval 42.08-65.53); p = 2 × 10−19.

Where it sits Chromosome 11, band 11q12.1 — between genes, 29 kb from OR5B12.

What each result means

A/A 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.
A/G One copy of the version the research linked to Hypertrophic cardiomyopathy. That is a smaller link than two copies.
G/G No copy of the version the research linked to Hypertrophic cardiomyopathy. This is the starting point the study compared everyone against.
Source

Questions about rs546759453

What is rs546759453?

rs546759453 is a single position in the genome, in or near the near OR5B12 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 rs546759453 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 rs546759453 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 rs546759453 come from?

GWAS Catalog, Nature genetics 2021, PMID:34594039. 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 (rs546759453). MyGeneLog™. https://www.mygenelog.com/variants/rs546759453

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