ATXN2 · rs140242317
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 8,809 European ancestry individuals.
The effect Each copy of the A allele shifted the measure 0.484 higher (95% confidence interval 0.35-0.62); p = 3 × 10−12.
Where it sits Chromosome 12, band 12q24.12 — a missense change in ATXN2.
What ClinVar records
Classification
Likely benign for ATXN2-related disorder; criteria provided, single submitter (1 of 4 stars, 2 submitters), last evaluated 2024-02-01.
ClinVar record 2643319 NM_001372574.1(ATXN2):c.2848C>T (p.Pro950Ser)
What this is ClinVar's aggregate record for this position (as of its 2026-10-19 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.
rs140242317 is a single position in the genome, in or near the ATXN2 gene. Published research associates it with n-acetylcarnosine 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, Metabolites 2022, PMID:35050183. 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.
N-acetylcarnosine levels (rs140242317). MyGeneLog™. https://www.mygenelog.com/variants/rs140242317