PNPO · rs4794333
Where this position leads
Condition: Epilepsy
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 C allele shifted the measure 5.8 lower; p = 7 × 10−9.
How common The C allele had a frequency of about 38% in the people studied.
Where it sits Chromosome 17, band 17q21.32 — in an intron of CDK5RAP3.
rs4794333 is a single position in the genome, in or near the PNPO 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.
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.
Generalized epilepsy (rs4794333). MyGeneLog™. https://www.mygenelog.com/variants/rs4794333