TGFB1 · rs1800469
Where this position leads
Condition: Colorectal Cancer
Solid lines are connections this site curates. Dashed lines mean the two ends share a research paper — worth knowing, and not a claim that one explains the other.
What the study found
Who was studied 2,098 East Asian ancestry cases, 6,172 East Asian ancestry controls; replicated in 12,865 East Asian ancestry cases, 25,773 East Asian ancestry controls, up to 16,984 European ancestry cases, up to 18,262 European ancestry controls.
The effect Each copy of the G allele carried 1.09 times the odds of Colorectal cancer (95% confidence interval 1.06-1.12); p = 1 × 10−8.
How common The G allele had a frequency of about 48% in the people studied.
Where it sits Chromosome 19, band 19q13.2 — in an intron of TMEM91.
What ClinVar records
Classification
Benign for Meckel-Gruber syndrome, Joubert syndrome; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 3 submitters), last evaluated 2026-02-02.
ClinVar record 39302 NC_000019.10:g.41354391A>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.
What people read about alongside this
Papers in Europe PMC whose title or abstract names both this rsID and that subject. A shared paper means somebody wrote about the two together — it is not a claim that this position explains the subject.
rs1800469 is a single position in the genome, in or near the TGFB1 gene. Published research associates it with colorectal cancer. 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 Colorectal Cancer. The research behind each link, and its sources, are set out on that condition page.
Subjects that appear in the title or abstract of the same papers as this rsID include heart and circulation (11 papers), infection and immunity (9 papers), blood sugar and insulin (6 papers), bones and fractures (5 papers), kidneys (4 papers). A shared paper means somebody wrote about the two together; it is not a claim that this position explains the topic.
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 2014, PMID:24836286. 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.
Colorectal cancer (rs1800469). MyGeneLog™. https://www.mygenelog.com/variants/rs1800469