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Genetic generalized epilepsy

VRK2 · rs6545674

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

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.

How common each version is

AG
Korean KRGDB
A 97.1% · G 2.9%
Korean Korea4K
A 96.8% · G 3.2%
Korean Korea1K
A 96.5% · G 3.5%
Japanese ToMMo
A 96.0% · G 4.0%
World gnomAD
A 80.7% · G 19.3%
World 1000 Genomes
A 82.0% · G 18.0%
World TOPMed
A 79.3% · G 20.7%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.

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
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
International League Against Epilepsy Consortium on Complex Epilepsies
Nature genetics · 2023 · PMID 37653029 · open access

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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