PCDH7 · rs28498976
Where this position leads
Condition: Epilepsy
Strength of the evidence
Its strongest genetic-study result is p = 10−8, 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 405 European ancestry cases, 127 African American cases, 248 cases, 2,330 European ancestry genetic generalised epilepsy cases, 81 African American genetic generalised epilepsy cases, 195 genetic generalised epilepsy cases, 3,277 European ancestry focal epilepsy cases, 222 African American focal epilepsy cases, 487 Han Chinese ancestry focal epilepsy cases, 1,324 focal epilepsy cases, up to 17,441 European ancestry controls, up to 2,843 African American controls, up to 2,875 Han Chinese ancestry controls, up to 2,998 controls.
The effect Each copy of the A allele carried 1.11 times the odds of Epilepsy (95% confidence interval 1.06-1.15); p = 5 × 10−9.
How common The A allele had a frequency of about 46% in the people studied.
Where it sits Chromosome 4, band 4p15.1 — between genes, 2.9 kb from PCDH7.
How common each version is
AG
A 49.6% · G 50.4%
A 50.2% · G 49.8%
A 51.1% · G 48.9%
A 49.7% · G 50.3%
A 47.6% · G 52.4%
A 43.8% · G 56.2%
A 48.7% · G 51.3%
A 44.3% · G 55.7%
The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.
rs28498976 is a single position in the genome, in or near the PCDH7 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.
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, Lancet Neurol 2014, PMID:25087078. 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.
Epilepsy (rs28498976). MyGeneLog™. https://www.mygenelog.com/variants/rs28498976