Genetic variant
rs1892971
rs1892971 is a single-letter difference in human DNA, on chromosome 11. 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 rs1892971 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
Integrative Studies Implicate Matrix Metalloproteinase 12 as a Culprit Gene for Large-Artery Atherosclerotic Stroke.
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 rs1892971, 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
- rs1892971
- Position
- chr11:102924877
Genome-wide association studies (11)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| MMP12 protein levels | A | OR 0.19 | 2E-234 | PubMed |
| Abdominal aortic aneurysm | — | β 0.095 | 2E-21 | PubMed |
| Occlusion and stenosis of precerebral arteries (PheCode 433.1) | G | OR 0.1 | 9E-19 | PubMed |
| Abdominal aortic aneurysm (PheCode 442.11) | G | OR 0.11 | 7E-17 | PubMed |
| Core binding factor acute myeloid leukemia | G | — | 5E-15 | PubMed |
| Cerebrovascular disease (PheCode 433) | G | β 0.059 | 4E-14 | PubMed |
| Abdominal aortic aneurysm (PheCode 442.11) | G | OR 0.11 | 4E-14 | PubMed |
| Aortic aneurysm (PheCode 442.1) | G | β 0.084 | 2E-13 | PubMed |
| Other aneurysm (PheCode 442) | G | β 0.075 | 4E-12 | PubMed |
| Aortic aneurysm (PheCode 442.1) | G | β 0.084 | 1E-11 | PubMed |
| Coronary artery disease | A | OR 0.96 | 5E-10 | PubMed |
Sources
- dbSNP: rs1892971 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies