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Its strongest genetic-study result is p = 10−10, 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 20,917 European ancestry cases, 440,906 European ancestry controls, 14,992 East Asian ancestry cases, 146,214 East Asian ancestry controls.
The effect
Each copy of the C allele shifted the measure 0.0618 lower (95% confidence interval 0.043-0.081); p = 1 × 10−10.
Where it sits Chromosome 1, band 1q21.3 — in an intron of IL6R.
What each result means
C/CTwo copies of the version the research linked to Myocardial infarction. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/TOne copy of the version the research linked to Myocardial infarction. That is a smaller link than two copies.
T/TNo copy of the version the research linked to Myocardial infarction. This is the starting point the study compared everyone against.
rs12404927 is a single position in the genome, in or near the IL6R gene. Published research associates it with myocardial infarction. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs12404927 linked to?
On MyGeneLog this position is linked to Myocardial Infarction. The research behind each link, and its sources, are set out on that condition page.
Does having rs12404927 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 rs12404927 come from?
GWAS Catalog, Nature genetics 2021, PMID:34594039. 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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