Genetic variant
rs11057830
rs11057830 is a single-letter difference in human DNA, on chromosome 12. 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 rs11057830 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 rs11057830, 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
- rs11057830
- Position
- chr12:124822507
Genome-wide association studies (17)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Coronary artery disease | A | β 0.082 | 3E-20 | PubMed |
| Coronary artery disease | A | β 0.066 | 2E-18 | PubMed |
| Low density lipoprotein cholesterol levels | — | β 0.03 | 2E-15 | PubMed |
| Coronary artery disease or fibrinogen levels (pleiotropy) | — | — | 6E-12 | PubMed |
| Coronary artery disease or factor VIII levels (pleiotropy) | — | — | 7E-12 | PubMed |
| Coronary artery disease or plasminogen activator inhibitor 1 levels (pleiotropy) | — | — | 8E-12 | PubMed |
| Coronary artery disease or tissue plasminogen activator levels (pleiotropy) | — | — | 8E-12 | PubMed |
| Coronary artery disease or factor VII levels (pleiotropy) | — | — | 8E-12 | PubMed |
| Coronary artery disease or von Willebrand factor levels (pleiotropy) | — | — | 8E-12 | PubMed |
| Coronary artery disease or factor XI levels (pleiotropy) | — | — | 8E-12 | PubMed |
| Heart failure (MTAG) | A | OR 6.46 | 1E-10 | PubMed |
| Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease) | A | OR 1.07 | 4E-9 | PubMed |
| Lipoprotein phospholipase A2 activity in cardiovascular disease | A | OR 3.67 | 7E-9 | PubMed |
| Vitamin E levels | A | β 0.03 | 8E-9 | PubMed |
| Medication use (HMG CoA reductase inhibitors) | A | β 0.046 | 2E-8 | PubMed |
| X-11308 levels | A | β 0.082 | 2E-8 | PubMed |
| Coronary artery disease (confirmatory factor analysis Factor 16) | — | — | 5E-8 | PubMed |
Sources
- dbSNP: rs11057830 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies