ATXN1 · rs179972
Where this position leads
Condition: Blood Pressure
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 at least 757,601 European ancestry individuals (MTAG boosted by 455,258 Alzheimer's disease samples).
The effect Each copy of the T allele shifted the measure 0.00966 higher (95% confidence interval 0.0063-0.0131); p = 2 × 10−8.
Where it sits Chromosome 6, band 6p22.3 — in an intron of ATXN1.
rs179972 is a single position in the genome, in or near the ATXN1 gene. Published research associates it with systolic blood pressure (mtag). 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 Blood Pressure. 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 communications 2024, PMID:39537608. 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.
Systolic blood pressure (MTAG) (rs179972). MyGeneLog™. https://www.mygenelog.com/variants/rs179972