Genetic variant
rs1333047
rs1333047 is a single-letter difference in human DNA, on chromosome 9. 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 rs1333047 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
We hold only the basic reference record for this variant: its ID and position. Many catalogued variants have never been linked to anything.
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 rs1333047, 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
- rs1333047
- Position
- chr9:22124505
Genome-wide association studies (19)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Atherosclerosis (PheCode 440) | A | OR 0.15 | 6E-47 | PubMed |
| Other aneurysm (PheCode 442) | A | OR 0.13 | 3E-46 | PubMed |
| Unstable angina (intermediate coronary syndrome) (PheCode 411.1) | A | OR 0.17 | 5E-46 | PubMed |
| Coronary artery calcification | — | — | 5E-46 | PubMed |
| Aortic aneurysm (PheCode 442.1) | A | OR 0.13 | 5E-40 | PubMed |
| Haemorrhoidal disease | A | OR 1.04 | 8E-28 | PubMed |
| Cerebrovascular disease (PheCode 433) | A | β 0.066 | 1E-26 | PubMed |
| Congestive heart failure | A | β 0.097 | 5E-19 | PubMed |
| Stroke | T | β 0.061 | 7E-19 | PubMed |
| Medication use (vasodilators used in cardiac diseases) | T | OR 0.17 | 5E-18 | PubMed |
| red blood cell count (RBC, mean, inv-norm transformed) | A | β 0.02 | 2E-14 | PubMed |
| Takes medication for congestive heart failure? | A | β 0.084 | 1E-13 | PubMed |
| heart rate (HR, mean, inv-normal transformed) | A | β 0.02 | 2E-11 | PubMed |
| Non-HDL cholesterol levels | — | — | 5E-11 | PubMed |
| Pulse pressure | A | OR 0.16 | 2E-10 | PubMed |
| Pulse pressure | A | OR 0.15 | 4E-9 | PubMed |
| Lung cancer or family history of lung cancer | T | OR 0.95 | 1E-8 | PubMed |
| Hypertension | A | β 0.081 | 5E-8 | PubMed |
| Large artery stroke | T | OR 1.2 | 2E-7 | PubMed |
Sources
- dbSNP: rs1333047 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies