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Hypertrophic cardiomyopathy (sarcomere positive)

OR5AK2 · rs139913353

Where this position leads

Condition: Hypertrophic Cardiomyopathy

rs139913353 Condition: Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy Condition rs139913353 rs139913353 OR5AK2

What the study found

Who was studied 54 African ancestry cases, 28 Hispanic/Latino cases, 18 East Asian ancestry cases, 728 European ancestry cases, 43 South Asian ancestry cases, 593 African ancestry controls, 92 Hispanic/Latino controls, 121 East Asian ancestry controls, 18,791 European ancestry controls, 595 South Asian ancestry controls.

The effect Each copy of the T allele shifted the measure 1.25 lower (95% confidence interval 0.91-1.59); p = 5 × 10−13.

How common The T allele had a frequency of about 99% in the people studied.

Where it sits Chromosome 11, band 11q12.1 — between genes, 6.2 kb from FADS2B.

What each result means

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

Questions about rs139913353

What is rs139913353?

rs139913353 is a single position in the genome, in or near the OR5AK2 gene. Published research associates it with hypertrophic cardiomyopathy (sarcomere positive). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs139913353 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 rs139913353 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 rs139913353 come from?

GWAS Catalog, Nature genetics 2021, PMID:33495597. 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 (sarcomere positive) (rs139913353). MyGeneLog™. https://www.mygenelog.com/variants/rs139913353

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