Genetic variant
rs4963772
rs4963772 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 rs4963772 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
Genome-wide Association Study of Heart Rate and Its Variability in Hispanic/Latino Cohorts.
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 rs4963772, 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
- rs4963772
- Position
- chr12:24605546
Genome-wide association studies (19)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Pulse rate (UKB data field 102) | A | β 0.059 | 1E-100 | PubMed |
| Resting heart rate | A | OR 0.71 | 3E-53 | PubMed |
| Resting heart rate | — | — | 5E-51 | PubMed |
| Heart rate variability (root mean square of successive differences) | G | OR 0.85 | 3E-35 | PubMed |
| Heart rate variability (corrected root mean square of successive differences) | G | OR 0.85 | 8E-32 | PubMed |
| Heart rate variability (standard deviation of normal-to-normal intervals) | G | OR 0.85 | 8E-29 | PubMed |
| Heart rate response to recovery post exercise (40 sec) | G | β 0.09 | 1E-28 | PubMed |
| Heart rate increase in response to exercise | G | β 0.089 | 6E-28 | PubMed |
| Heart rate response to recovery post exercise (50 sec) | G | β 0.087 | 1E-26 | PubMed |
| Heart rate response to recovery post exercise (30 sec) | G | β 0.079 | 2E-22 | PubMed |
| Heart rate variability (corrected standard deviation of normal-to-normal intervals) | G | OR 0.85 | 2E-21 | PubMed |
| Heart rate response to recovery post exercise (10 sec) | G | β 0.074 | 1E-19 | PubMed |
| Heart rate response to recovery post exercise (20 sec) | G | β 0.073 | 2E-19 | PubMed |
| Resting heart rate | G | OR 0.77 | 7E-18 | PubMed |
| Heart rate response to recovery post exercise | G | OR 0.5 | 2E-11 | PubMed |
| Cardiorespiratory fitness slope | G | β 0.009 | 6E-11 | PubMed |
| Heart rate variability traits (RMSSD) | A | β 0.069 | 2E-9 | PubMed |
| Predicted heart recovery rate | A | OR 0.24 | 2E-8 | PubMed |
| Pulse pressure | A | OR 0.21 | 2E-6 | PubMed |
Sources
- dbSNP: rs4963772 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies