PNPO · rs17679445
Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.
What the study found
Who was studied 3,506 European ancestry individuals.
The effect Each copy of the A allele shifted the measure 1.29 lower (95% confidence interval 1.21-1.37); p = 8 × 10−196.
How common The A allele had a frequency of about 7% in the people studied.
Where it sits Chromosome 17, band 17q21.32 — a missense change in PNPO.
What ClinVar records
Classification
Benign/Likely benign for Pyridoxal phosphate-responsive seizures, Inborn genetic diseases; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 12 submitters), last evaluated 2026-02-04.
ClinVar record 129981 NM_018129.4(PNPO):c.347G>A (p.Arg116Gln)
What this is ClinVar's aggregate record for this position (as of its 2026-10-12 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.
rs17679445 is a single position in the genome, in or near the PNPO gene. Published research associates it with keratin, type i cytoskeletal 18 levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
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 2024, PMID:39528825. 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.
Keratin, type I cytoskeletal 18 levels (rs17679445). MyGeneLog™. https://www.mygenelog.com/variants/rs17679445