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Hypertrophic cardiomyopathy (MTAG)

GTF2B · rs2810883

What the study found

Who was studied 28,106 European, African, Admixed American, East Asian, South Asian or unknown ancestry individuals (MTAG effective sample size boosted by left ventricular trait samples).

The effect Each copy of the C allele shifted the measure 0.123 higher (95% confidence interval 0.084-0.162); p = 5 × 10−10.

How common The C allele had a frequency of about 46% in the people studied.

Where it sits Chromosome 1, band 1p22.2 — in an intron of GTF2B.

What each result means

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

Questions about rs2810883

What is rs2810883?

rs2810883 is a single position in the genome, in or near the GTF2B gene. Published research associates it with hypertrophic cardiomyopathy (mtag). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs2810883 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 rs2810883 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 (MTAG) (rs2810883). MyGeneLog™. https://www.mygenelog.com/variants/rs2810883

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