ACVRL1 · rs2293093
Where this position leads
Condition: Medication Use as a Genetic Trait
What the study found
Who was studied 73,475 European ancestry cases, 216,910 European ancestry controls.
The effect Each copy of the G allele shifted the measure 0.0512 higher (95% confidence interval 0.034-0.069); p = 9 × 10−9.
How common The G allele had a frequency of about 11% in the people studied.
Where it sits Chromosome 12, band 12q13.13 — in the 3′ untranslated region of ACVRL1.
What ClinVar records
Classification
Benign for Telangiectasia, hereditary hemorrhagic, type 2; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2018-01-13.
ClinVar record 309483 NM_000020.3(ACVRL1):c.*2380C>G
What this is ClinVar's aggregate record for this position (as of its 2026-09-24 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.
rs2293093 is a single position in the genome, in or near the ACVRL1 gene. Published research associates it with medication use (hmg coa reductase inhibitors). 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 Medication Use as a Genetic Trait. 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, Nat Commun 2019, PMID:31015401. 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.
Medication use (HMG CoA reductase inhibitors) (rs2293093). MyGeneLog™. https://www.mygenelog.com/variants/rs2293093