ACVRL1 · rs139142865
Where this position leads
Condition: Celiac Disease
What the study found
Who was studied 47,745 European ancestry individuals.
The effect Each copy of the T allele shifted the measure 0.335 lower (95% confidence interval 0.23-0.44); p = 5 × 10−12.
How common The T allele had a frequency of about 0% in the people studied.
Where it sits Chromosome 12, band 12q13.13 — a missense change in ACVRL1.
What ClinVar records
Classification
Likely benign for Haemorrhagic telangiectasia 2, Telangiectasia, hereditary hemorrhagic, type 2, Thrombocytopenia, Abnormal bleeding, Pulmonary arterial hypertension and 2 more; reviewed by expert panel (3 of 4 stars, 20 submitters), last evaluated 2024-03-15.
ClinVar record 161201 NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val)
Classification
Pathogenic for Telangiectasia, hereditary hemorrhagic, type 2; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2023-11-29.
ClinVar record 2735880 NM_000020.3(ACVRL1):c.1445C>A (p.Ala482Glu)
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.
rs139142865 is a single position in the genome, in or near the ACVRL1 gene. Published research associates it with acvrl1 protein 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 Celiac Disease. 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 2025, PMID:39789286. 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.
ACVRL1 protein levels (rs139142865). MyGeneLog™. https://www.mygenelog.com/variants/rs139142865