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Clonal hematopoiesis (DNMT3A mutation)

CCDC162P · rs12524502

What the study found

Who was studied 5,185 European ancestry cases, 173,918 European ancestry controls; replicated in 6,828 European ancestry cases, 211,900 European ancestry controls.

The effect Each copy of the A allele carried 1.16 times the odds of Clonal hematopoiesis (DNMT3A mutation) (95% confidence interval 1.11192549709671-1.20094192942114); p = 2 × 10−13.

How common The A allele had a frequency of about 70% in the people studied.

Where it sits Chromosome 6, band 6q21 — in an intron of CCDC162P.

What each result means

A/A Two copies of the version the research linked to Clonal hematopoiesis (DNMT3A mutation). 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 Clonal hematopoiesis (DNMT3A mutation). That is a smaller link than two copies.
G/G No copy of the version the research linked to Clonal hematopoiesis (DNMT3A mutation). This is the starting point the study compared everyone against.
Source

Questions about rs12524502

What is rs12524502?

rs12524502 is a single position in the genome, in or near the CCDC162P gene. Published research associates it with clonal hematopoiesis (dnmt3a mutation). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs12524502 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 rs12524502 come from?

GWAS Catalog, Nature genetics 2022, PMID:35835912. 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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Clonal hematopoiesis (DNMT3A mutation) (rs12524502). MyGeneLog™. https://www.mygenelog.com/variants/rs12524502

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