COL11A1 · rs12406439
Where this position leads
Condition: Carpal Tunnel Syndrome
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 12,312 European ancestry cases, 389,344 European ancestry controls.
The effect Each copy of the T allele carried 1.08 times the odds of Carpal tunnel syndrome (95% confidence interval 1.05–1.11); p = 1 × 10−8.
How common The T allele had a frequency of about 59% in the people studied.
Where it sits Chromosome 1, band 1p21.1 — between genes, 101.7 kb from COL11A1.
rs12406439 is a single position in the genome, in or near the COL11A1 gene. Published research associates it with carpal tunnel syndrome. 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 Carpal Tunnel Syndrome. 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 2019, PMID:30833571. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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Carpal tunnel syndrome (rs12406439). MyGeneLog™. https://www.mygenelog.com/variants/rs12406439