Standard

Epilepsy

HEATR3 · rs4638568

Where this position leads

Condition: Epilepsy

rs4638568 Condition: Epilepsy Epilepsy Condition rs4638568 rs4638568 HEATR3

What the study found

Who was studied 14,534 European ancestry cases, 531 Han Chinese ancestry cases, 147 African American cases, 24,218 European ancestry controls, 2,875 Han Chinese ancestry controls, 2,584 African American controls.

The effect Each copy of the A allele shifted the measure 5.49 lower; p = 4 × 10−8.

How common The A allele had a frequency of about 6% in the people studied.

Where it sits Chromosome 16, band 16q12.1 — between genes, 12.5 kb from CNEP1R1.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of 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 Epilepsy.
G/G Published research associates this genotype with typical/baseline likelihood of Epilepsy — no copies of the reported risk allele.
Source

Questions about rs4638568

What is rs4638568?

rs4638568 is a single position in the genome, in or near the HEATR3 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 rs4638568 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 rs4638568 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 rs4638568 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.

Epilepsy (rs4638568). MyGeneLog™. https://www.mygenelog.com/variants/rs4638568

← See all variants