Genetic variant
rs604723
rs604723 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 rs604723 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
Blood pressure-associated polymorphism controls ARHGAP42 expression via serum response factor DNA binding.
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 rs604723, 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
- rs604723
- Position
- chr11:100739815
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Systolic blood pressure | C | OR 0.54 | 2E-86 | PubMed |
| Diastolic blood pressure | C | OR 0.33 | 4E-85 | PubMed |
| Diastolic blood pressure (MTAG) | T | β 0.036 | 4E-82 | PubMed |
| Systolic blood pressure | — | — | 6E-81 | PubMed |
| Systolic blood pressure (MTAG) | T | β 0.036 | 2E-79 | PubMed |
| Systolic blood pressure | T | β 0.027 | 4E-69 | PubMed |
| Systolic blood pressure | — | β 0.037 | 5E-66 | PubMed |
| Diastolic blood pressure | T | β 0.027 | 9E-65 | PubMed |
| Diastolic blood pressure | — | β 0.039 | 2E-63 | PubMed |
| Hypertension | C | β 0.078 | 9E-48 | PubMed |
| Diastolic blood pressure | T | β 0.04 | 2E-45 | PubMed |
| Diastolic blood pressure | C | β 0.029 | 3E-42 | PubMed |
| Systolic blood pressure (UKB data field 4080) | C | β 0.028 | 5E-41 | PubMed |
| Cardiovascular disease | — | — | 8E-40 | PubMed |
| Systolic blood pressure | T | β 0.03 | 1E-39 | PubMed |
| Hypertension | — | — | 1E-36 | PubMed |
| Medication use (agents acting on the renin-angiotensin system) | T | β 0.086 | 2E-36 | PubMed |
| Medication use (agents acting on the renin-angiotensin system) | C | β 0.065 | 4E-35 | PubMed |
| Medication use for hypertension (number of purchases) | — | β 0.019 | 6E-34 | PubMed |
| Pulse pressure | C | OR 0.23 | 3E-33 | PubMed |
Sources
- dbSNP: rs604723 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies