Genetic variant
rs2234962
rs2234962 is a single-letter difference in human DNA, on chromosome 10. 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 rs2234962 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 rs2234962, 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
- rs2234962
- Position
- chr10:119670121
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Electrocardiogram morphology (amplitude at temporal datapoints) | T | OR 0.1 | 5E-54 | PubMed |
| Hypertrophic cardiomyopathy | C | OR 1.45 | 1E-49 | PubMed |
| Hypertrophic cardiomyopathy (sarcomere-negative) | C | OR 0.4 | 2E-38 | PubMed |
| Dilated cardiomyopathy (MTAG) | T | OR 1.21 | 7E-38 | PubMed |
| Aspartate aminotransferase levels | T | β 0.037 | 4E-37 | PubMed |
| Dilated cardiomyopathy | T | — | 2E-32 | PubMed |
| Height | — | — | 3E-27 | PubMed |
| Primary/intrinsic cardiomyopathies (PheCode 425.1) | T | OR 0.14 | 3E-26 | PubMed |
| Aspartate aminotransferase (AST, mean, inv-norm transformed) | T | β 0.037 | 1E-23 | PubMed |
| BAG3 protein levels | C | β 0.064 | 2E-20 | PubMed |
| MB protein levels | C | β 0.053 | 3E-20 | PubMed |
| Aspartate aminotransferase (AST, maximum, inv-norm transformed) | T | β 0.031 | 7E-20 | PubMed |
| MYBPC1 protein levels | C | β 0.053 | 1E-16 | PubMed |
| Average diameter for HDL particles | C | β 0.02 | 3E-15 | PubMed |
| MYL3 protein levels | C | β 0.05 | 4E-15 | PubMed |
| Physical function (baseline) | T | β 0.01 | 1E-14 | PubMed |
| FABP3 protein levels | C | β 0.045 | 3E-13 | PubMed |
| diastolic blood pressure (DBP, mean, inv-normal transformed) | T | β 0.026 | 5E-13 | PubMed |
| Forced expiratory volume (baseline) | T | β 0.014 | 4E-12 | PubMed |
| Idiopathic dilated cardiomyopathy | — | OR 1.52 | 4E-12 | PubMed |
Sources
- dbSNP: rs2234962 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies