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Genetic generalized epilepsy

VRK2 · rs6545674

Where this position leads

Condition: Epilepsy

rs6545674 Condition: Epilepsy Epilepsy Condition rs6545674 rs6545674 VRK2

Strength of the evidence

1 / 4

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 6,952 European ancestry cases, 42,436 European ancestry controls, 118 African ancestry cases, 3,680 African ancestry controls, 337 Asian ancestry cases, 6,422 Asian ancestry controls.

The effect The reported allele is A; the catalogue records no effect size ; p = 2 × 10−10.

Where it sits Chromosome 2, band 2p16.1 — in an intron of VRK2.

What each result means

A/A Two copies of the version the research linked to Genetic generalized epilepsy. 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 Genetic generalized epilepsy. That is a smaller link than two copies.
G/G No copy of the version the research linked to Genetic generalized epilepsy. This is the starting point the study compared everyone against.
Source

Questions about rs6545674

What is rs6545674?

rs6545674 is a single position in the genome, in or near the VRK2 gene. Published research associates it with genetic generalized 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 rs6545674 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 rs6545674 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 rs6545674 come from?

GWAS Catalog, Nature genetics 2023, PMID:37653029. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Genetic generalized epilepsy (rs6545674). MyGeneLog™. https://www.mygenelog.com/variants/rs6545674

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