Standard

Generalized epilepsy

near VRK2 · rs13026414

Where this position leads

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10⁻⁹, 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 702 European ancestry genetic absence epilepsies cases, 586 European ancestry juvenile myoclonic epilepsy cases, 239 European ancestry other genetic generalized epilepsies cases, 2,461 European ancestry controls; replicated in 347 European ancestry genetic absence epilepsies trios, 166 European ancestry juvenile myoclonic epilepsy trios, 91 European ancestry other genetic generalized epilepsies trios, 385 European ancestry genetic absence epilepsies cases, 382 European ancestry juvenile myoclonic epilepsy cases, 122 European ancestry other genetic generalized epilepsies cases, up to 889 European ancestry controls.

The effect Each copy of the C allele carried 1.23 times the odds of Generalized epilepsy (95% confidence interval 1.15-1.32); p = 2 × 10⁻⁹.

How common The C allele had a frequency of about 58% in the people studied.

Where it sits Chromosome 2, band 2p16.1 — in an intron of LOC101927235.

How common each version is

CT

Korean KRGDB

C 78.9% · T 21.1%

Korean Korea4K

C 78.8% · T 21.2%

Korean Korea1K

C 78.0% · T 22.0%

Japanese ToMMo

C 79.7% · T 20.3%

Vietnamese

C 85.2% · T 14.8%

World gnomAD

C 71.2% · T 28.8%

World 1000 Genomes

C 77.5% · T 22.5%

World TOPMed

C 71.1% · T 28.9%

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

C/C Two copies of the version the research linked to Generalized epilepsy. That is the strongest link of the three results. A link in a study is not a diagnosis.

C/T One copy of the version the research linked to Generalized epilepsy. That is a smaller link than two copies.

T/T No copy of the version the research linked to Generalized epilepsy. This is the starting point the study compared everyone against.

Source

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

Steffens M, Leu C, Ruppert AK, Zara F, Striano P, Robbiano A, Capovilla G, Tinuper P, Gambardella A, Bianchi A, La Neve A, Crichiutti G

and 78 more — show all

de Kovel CG, Kasteleijn-Nolst Trenité D, de Haan GJ, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Steinhoff BJ, Kleefuß-Lie AA, Kunz WS, Surges R, Elger CE, Muhle H, von Spiczak S, Ostertag P, Helbig I, Stephani U, Møller RS, Hjalgrim H, Dibbens LM, Bellows S, Oliver K, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, Siren A, Guipponi M, Malafosse A, Thomas P, Nabbout R, Baulac S, Leguern E, Guerrero R, Serratosa JM, Reif PS, Rosenow F, Mörzinger M, Feucht M, Zimprich F, Kapser C, Schankin CJ, Suls A, Smets K, De Jonghe P, Jordanova A, Caglayan H, Yapici Z, Yalcin DA, Baykan B, Bebek N, Ozbek U, Gieger C, Wichmann HE, Balschun T, Ellinghaus D, Franke A, Meesters C, Becker T, Wienker TF, Hempelmann A, Schulz H, Rüschendorf F, Leber M, Pauck SM, Trucks H, Toliat MR, Nürnberg P, Avanzini G, Koeleman BP, Sander T

EPICURE Consortium · EMINet Consortium

Human molecular genetics · 2012 · PMID 22949513

Questions about rs13026414

What is rs13026414?

rs13026414 is a single position in the genome, in or near the near VRK2 gene. Published research associates it with 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 rs13026414 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 rs13026414 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 rs13026414 come from?

GWAS Catalog, Hum Mol Genet 2012, PMID:22949513. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Generalized epilepsy (rs13026414). MyGeneLog™. https://www.mygenelog.com/variants/rs13026414

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