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Butyrophilin subfamily 3 member A2 levels

CARMIL1 · rs2744239

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−25, with 1 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

Who was studied 2,549 European ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.689 lower (95% confidence interval 0.57-0.81); p = 7 × 10−26.

How common The G allele had a frequency of about 5% in the people studied.

Where it sits Chromosome 6, band 6p22.2 — in an intron of CARMIL1.

What each result means

A/A No copy of the version the research linked to Butyrophilin subfamily 3 member A2 levels. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Butyrophilin subfamily 3 member A2 levels. That is a smaller link than two copies.
G/G Two copies of the version the research linked to Butyrophilin subfamily 3 member A2 levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs2744239

What is rs2744239?

rs2744239 is a single position in the genome, in or near the CARMIL1 gene. Published research associates it with butyrophilin subfamily 3 member a2 levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs2744239 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 rs2744239 come from?

GWAS Catalog, Nature genetics 2024, PMID:39528825. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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Butyrophilin subfamily 3 member A2 levels (rs2744239). MyGeneLog™. https://www.mygenelog.com/variants/rs2744239

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