Standard

Generalized epilepsy

ATXN1 · rs68082256

Where this position leads

Condition: Epilepsy

rs68082256 Condition: Epilepsy Epilepsy Condition rs68082256 rs68082256 ATXN1

What the study found

Who was studied 3,708 European ancestry cases, 61 African American cases, 24,218 European ancestry controls, 2,584 African American controls.

The effect Each copy of the A allele shifted the measure 6.02 lower; p = 2 × 10−9.

How common The A allele had a frequency of about 20% in the people studied.

Where it sits Chromosome 6, band 6p22.3 — between genes, 130.7 kb from STMND1.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Generalized epilepsy compared to the general population.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Generalized epilepsy.
G/G Published research associates this genotype with typical/baseline likelihood of Generalized epilepsy — no copies of the reported risk allele.
Source

Questions about rs68082256

What is rs68082256?

rs68082256 is a single position in the genome, in or near the ATXN1 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 rs68082256 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 rs68082256 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 rs68082256 come from?

GWAS Catalog, Nat Commun 2018, PMID:30531953. 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 (rs68082256). MyGeneLog™. https://www.mygenelog.com/variants/rs68082256

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