GJA1 · rs1318322
Where this position leads
Condition: Epilepsy
What the study found
Who was studied 709 European ancestry cases, 24,218 European ancestry controls.
The effect Each copy of the G allele shifted the measure 5.8 higher; p = 7 × 10−9.
How common The G allele had a frequency of about 14% in the people studied.
Where it sits Chromosome 6, band 6q22.31 — between genes, 65.9 kb from TBC1D32.
rs1318322 is a single position in the genome, in or near the GJA1 gene. Published research associates it with focal epilepsy (with hippocampal sclerosis). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
On MyGeneLog this position is linked to Epilepsy. The research behind each link, and its sources, are set out on that condition page.
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.
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.
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.
Focal epilepsy (with hippocampal sclerosis) (rs1318322). MyGeneLog™. https://www.mygenelog.com/variants/rs1318322