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Its strongest genetic-study result is p = 10−7, with 2 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 4,382 European ancestry cases, 453,928 European ancestry controls, 2,466 East Asian ancestry cases, 175,788 East Asian ancestry controls.
The effect
Each copy of the G allele shifted the measure 1.02 higher (95% confidence interval 0.65-1.38); p = 4 × 10−8.
Where it sits Chromosome 8, band 8q24.11 — in an intron of EXT1.
What each result means
C/CNo copy of the version the research linked to Epilepsy. This is the starting point the study compared everyone against.
C/GOne copy of the version the research linked to Epilepsy. That is a smaller link than two copies.
G/GTwo copies of the version the research linked to Epilepsy. That is the strongest link of the three results. A link in a study is not a diagnosis.
rs998956939 is a single position in the genome, in or near the EXT1 gene. Published research associates it with epilepsy. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs998956939 linked to?
On MyGeneLog this position is linked to Epilepsy. The research behind each link, and its sources, are set out on that condition page.
Does having rs998956939 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 rs998956939 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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