AP3D1 · rs4807201
Where this position leads
Condition: Epilepsy
Strength of the evidence
Its strongest genetic-study result is p = 10−9, with 1 associations in the GWAS Catalog.
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 6,952 European ancestry cases, 42,436 European ancestry controls, 118 African ancestry cases, 3,680 African ancestry controls, 337 Asian ancestry cases, 6,422 Asian ancestry controls.
The effect The reported allele is T; the catalogue records no effect size ; p = 2 × 10−9.
Where it sits Chromosome 19, band 19p13.3 — in an intron of AP3D1.
rs4807201 is a single position in the genome, in or near the AP3D1 gene. Published research associates it with genetic 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, Nature genetics 2023, PMID:37653029. 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.
Genetic generalized epilepsy (rs4807201). MyGeneLog™. https://www.mygenelog.com/variants/rs4807201