ATXN2 · rs72650673
Where this position leads
Condition: Gout
What the study found
Who was studied 342,399 European ancestry individuals, 6,015 African ancestry individuals, 7,338 South Asian ancestry individuals.
The effect Each copy of the A allele shifted the measure 0.292 higher (95% confidence interval 0.24-0.35); p = 9 × 10−27.
Where it sits Chromosome 12, band 12q24.12 — a missense change in ATXN2.
What ClinVar records
Classification
Uncertain significance for Primary myelofibrosis, Thrombocythemia 1, Primary familial polycythemia due to EPO receptor mutation; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 6 submitters), last evaluated 2026-09-08.
ClinVar record 501686 NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys)
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.
rs72650673 is a single position in the genome, in or near the ATXN2 gene. Published research associates it with cystatin c levels. 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 Gout. 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 2021, PMID:33462484. 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.
Cystatin C levels (rs72650673). MyGeneLog™. https://www.mygenelog.com/variants/rs72650673