Genetic variant
rs17249754
rs17249754 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 rs17249754 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
Korean systolic blood pressure rs17249754 (P = 1.3 times 10-7) [GWAS:Biomedical quantitative traits...
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 rs17249754, 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
- rs17249754
- Position
- chr12:89666809
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Systolic blood pressure (MTAG) | A | β 0.046 | 7E-91 | PubMed |
| Systolic blood pressure (cigarette smoking interaction) | — | — | 5E-85 | PubMed |
| Systolic blood pressure | A | OR 0.87 | 8E-73 | PubMed |
| Diastolic blood pressure (cigarette smoking interaction) | — | — | 6E-57 | PubMed |
| Diastolic blood pressure | A | OR 0.42 | 2E-49 | PubMed |
| Diastolic blood pressure | A | β 0.047 | 2E-40 | PubMed |
| Systolic blood pressure | A | β 0.048 | 8E-23 | PubMed |
| Systolic blood pressure | A | OR 0.74 | 4E-21 | PubMed |
| Systolic blood pressure | A | OR 0.9 | 7E-20 | PubMed |
| Blood pressure | G | OR 1.17 | 8E-20 | PubMed |
| Blood pressure | G | OR 0.56 | 1E-17 | PubMed |
| Mean arterial pressure | A | OR 0.47 | 2E-17 | PubMed |
| Systolic blood pressure | A | OR 1.39 | 3E-17 | PubMed |
| Diastolic blood pressure | A | OR 0.5 | 1E-16 | PubMed |
| Mean arterial pressure | A | OR 0.96 | 2E-16 | PubMed |
| Coronary atherosclerosis (PheCode 411.4) | G | β 0.056 | 5E-15 | PubMed |
| Blood pressure | A | OR 0.8 | 7E-15 | PubMed |
| Pulse pressure | A | OR 0.41 | 4E-14 | PubMed |
| Blood pressure | G | OR 0.58 | 2E-13 | PubMed |
| Diastolic blood pressure | A | OR 0.74 | 5E-13 | PubMed |
Sources
- dbSNP: rs17249754 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies