COL6A1 · rs75434097
Where this position leads
Condition: Diverticular Disease
What the study found
Who was studied 27,444 British ancestry cases, 382,284 British ancestry controls.
The effect Each copy of the A allele shifted the measure 0.00502 higher; p = 5 × 10−11.
How common The A allele had a frequency of about 14% in the people studied.
Where it sits Chromosome 21, band 21q22.3 — in an intron of COL6A1.
What ClinVar records
Classification
Benign; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2018-06-14.
ClinVar record 681673 NM_001848.3(COL6A1):c.1741-51G>A
What this is ClinVar's aggregate record for this position (as of its 2026-10-05 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.
rs75434097 is a single position in the genome, in or near the COL6A1 gene. Published research associates it with diverticular 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 Diverticular 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, Nat Genet 2018, PMID:30177863. 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.
Diverticular disease (rs75434097). MyGeneLog™. https://www.mygenelog.com/variants/rs75434097