Standard

Hypertrophic cardiomyopathy

FHOD3 · rs2644262

Where this position leads

Condition: Hypertrophic Cardiomyopathy

rs2644262 Condition: Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy Condition rs2644262 rs2644262 FHOD3

What the study found

Who was studied 252 African ancestry cases, 1,363 African ancestry controls, 123 Admixed American ancestry cases, 175 Admixed American ancestry controls, 72 East Asian ancestry cases, 346 East Asian ancestry controls, 5,222 European ancestry cases, 63,447 European ancestry controls, 189 South Asian ancestry cases, 1,903 South Asian ancestry controls, 42 cases, 1,125 controls.

The effect Each copy of the C allele carried 1.38 times the odds of Hypertrophic cardiomyopathy (95% confidence interval 1.32-1.45); p = 2 × 10−43.

How common The C allele had a frequency of about 29% in the people studied.

Where it sits Chromosome 18, band 18q12.2 — in an intron of FHOD3.

What each result means

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

Questions about rs2644262

What is rs2644262?

rs2644262 is a single position in the genome, in or near the FHOD3 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 rs2644262 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 rs2644262 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 rs2644262 come from?

GWAS Catalog, Nature genetics 2025, PMID:39966646. 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 (rs2644262). MyGeneLog™. https://www.mygenelog.com/variants/rs2644262

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