Genetic variant
rs2294008
rs2294008 is a single-letter difference in human DNA, on chromosome 8. Carrying it does not, on its own, mean you have or will develop any condition.
What is this?
Your DNA is a long sequence of four letters. At a few million positions, people commonly differ by a single letter; each of those positions is called a SNP (“snip”), and rs2294008 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
rs2976392 and diffuse-type gastric cancer (allele-specific odds ratio (OR) = 1.62, 95%
From SNPedia
Why might it matter?
ClinVar holds no clinical classification for this variant. That is the usual case: most catalogued variants have no known effect on health.
Do I have this variant?
If you have taken a consumer DNA test (23andMe, AncestryDNA and similar), you can download its raw data file and check. Create a free account, upload the file, and this page will show the letters you carry at rs2294008, if your test read this position.
Connect this with your blood results
A gene is a fixed instruction; a blood test shows what your body is doing now. CheckMyBloods reads the two side by side, so a variant can be set against the markers it could plausibly affect.
Blood markers do not diagnose a genetic condition, and a variant does not explain a blood result on its own. Together, with symptoms and family history, they give a clinician context.
What should I do next?
- Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
- Put it in context. Add your blood results, so the variant can be read against what your body is doing.
- Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
- Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.
This page is general information drawn from public research databases. It cannot diagnose anything, and it is not a substitute for advice from a doctor or genetic counsellor who knows your history.
Technical details
- dbSNP ID
- rs2294008
- Position
- chr8:142680513
Genome-wide association studies (13)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Duodenal ulcer | T | OR 0.41 | 8E-189 | PubMed |
| Peptic ulcer disease | T | OR 0.22 | 1E-123 | PubMed |
| Comorbidity of gastric and duodenal ulcers | T | OR 0.43 | 1E-58 | PubMed |
| Gastric cancer | T | OR 1.31 | 1E-44 | PubMed |
| Duodenal ulcer | C | OR 1.41 | 2E-33 | PubMed |
| Peptic ulcer (excl. esophageal) (PheCode 531) | C | β 0.08 | 1E-16 | PubMed |
| Bladder cancer | T | OR 1.13 | 4E-11 | PubMed |
| Gastric atrophy | C | OR 0.43 | 4E-11 | PubMed |
| Non-cardia gastric cancer | T | OR 1.2 | 6E-11 | PubMed |
| Bladder cancer | T | OR 1.15 | 2E-10 | PubMed |
| Gastric cancer | T | OR 1.21 | 2E-7 | PubMed |
| Gastric adenocarcinoma (histologically verified) | T | OR 1.21 | 1E-6 | PubMed |
| Cancer | — | OR 1.03 | 8E-6 | PubMed |
Sources
- dbSNP: rs2294008 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies