Genetic variant
rs2681492
rs2681492 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 rs2681492 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
23andMe blog blood pressure [GWAS:Systolic blood pressure]
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 rs2681492, 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
- rs2681492
- Position
- chr12:89619312
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| systolic blood pressure (SBP, mean, inv-normal transformed) | T | β 0.071 | 1E-100 | PubMed |
| Systolic blood pressure | — | OR 0.76 | 2E-74 | PubMed |
| Systolic blood pressure | C | β 0.051 | 3E-47 | PubMed |
| Pulse pressure x alcohol consumption interaction (2df test) | T | — | 5E-46 | PubMed |
| Systolic blood pressure | T | OR 0.66 | 3E-40 | PubMed |
| Cardiovascular disease | — | — | 1E-27 | PubMed |
| systolic blood pressure (SBP, minimum, inv-normal transformed) | T | β 0.034 | 2E-25 | PubMed |
| Diastolic blood pressure | T | OR 0.31 | 1E-24 | PubMed |
| Pulse pressure | T | OR 0.34 | 2E-24 | PubMed |
| Other chronic ischemic heart disease, unspecified (PheCode 411.8) | T | β 0.069 | 1E-22 | PubMed |
| Systolic blood pressure | T | OR 0.72 | 1E-20 | PubMed |
| Mean arterial pressure | T | OR 0.46 | 5E-17 | PubMed |
| Hypertension | — | β 0.065 | 2E-15 | PubMed |
| Coronary artery disease | T | β 0.063 | 3E-15 | PubMed |
| Coronary artery disease | T | β 0.056 | 9E-15 | PubMed |
| Pulse pressure | T | OR 0.4 | 5E-14 | PubMed |
| Heart attack | T | β 0.079 | 5E-14 | PubMed |
| Systolic blood pressure | T | OR 0.54 | 9E-12 | PubMed |
| Diastolic blood pressure | T | OR 0.33 | 4E-11 | PubMed |
| Systolic blood pressure | T | OR 0.85 | 4E-11 | PubMed |
Sources
- dbSNP: rs2681492 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies