C2 · rs2072633
Where this position leads
Condition: Coronary Artery Disease
What the study found
Who was studied 88,192 cases, 162,544 controls; replicated in 34,541 cases, 261,984 controls.
The effect Each copy of the A allele shifted the measure 0.0411 lower (95% confidence interval 0.03-0.052); p = 6 × 10−13.
How common The A allele had a frequency of about 44% in the people studied.
Where it sits Chromosome 6, band 6p21.33 — in an intron of CFB.
What ClinVar records
Classification
Benign for Complement factor b deficiency, Atypical hemolytic-uremic syndrome with B factor anomaly, Atypical hemolytic-uremic syndrome; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 3 submitters), last evaluated 2025-09-26.
ClinVar record 1209734 NM_001710.6(CFB):c.2140-74A>G
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.
rs2072633 is a single position in the genome, in or near the C2 gene. Published research associates it with coronary artery disease. 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 Coronary Artery 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, Circ Res 2017, PMID:29212778. 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.
Coronary artery disease (rs2072633). MyGeneLog™. https://www.mygenelog.com/variants/rs2072633