SMARCB1 · rs2267045
Where this position leads
Condition: Atrial Fibrillation
What the study found
Who was studied 252,438 European ancestry cases, 1,959,739 European ancestry controls, 9,826 East Asian ancestry cases, 140,446 East Asian ancestry controls, 754 South Asian ancestry cases, 52,054 South Asian ancestry controls, 9,485 African ancestry cases, 109,006 African ancestry controls, 3,447 Admixed American ancestry cases, 46,818 Admixed American ancestry controls.
The effect Each copy of the A allele shifted the measure 0.039 lower (95% confidence interval 0.029-0.049); p = 2 × 10−15.
How common The A allele had a frequency of about 84% in the people studied.
Where it sits Chromosome 22, band 22q11.23 — in an intron of SMARCB1.
What ClinVar records
Classification
Benign; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2018-06-26.
ClinVar record 1294269 NM_003073.5(SMARCB1):c.987-176A>C
What this is ClinVar's aggregate record for this position (as of its 2026-10-12 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.
rs2267045 is a single position in the genome, in or near the SMARCB1 gene. Published research associates it with atrial fibrillation. 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 Atrial Fibrillation. 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 2025, PMID:40645996. 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.
Atrial fibrillation (rs2267045). MyGeneLog™. https://www.mygenelog.com/variants/rs2267045