Genetic variant
rs4982731
rs4982731 is a single-letter difference in human DNA, on chromosome 14. 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 rs4982731 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnica...
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 rs4982731, 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
- rs4982731
- Position
- chr14:23116124
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Basophil (fraction, mean, inv-norm transformed) | C | OR 0.12 | 1E-229 | PubMed |
| Basophil (fraction, maximum, inv-norm transformed) | C | OR 0.12 | 2E-198 | PubMed |
| Basophil (fraction, maximum, inv-norm transformed) | C | OR 0.1 | 1E-181 | PubMed |
| Basophil (fraction, minimum, inv-norm transformed) | C | β 0.08 | 2E-138 | PubMed |
| Basophil (absolute count, mean, inv-norm transformed) | C | β 0.085 | 2E-108 | PubMed |
| Basophil (absolute count, maximum, inv-norm transformed) | C | β 0.078 | 6E-97 | PubMed |
| Basophil (absolute count, minimum, inv-norm transformed) | C | β 0.05 | 2E-50 | PubMed |
| Basophil (fraction, mean, inv-norm transformed) | C | OR 0.12 | 1E-47 | PubMed |
| Basophil (fraction, mean, inv-norm transformed) | C | β 0.085 | 3E-43 | PubMed |
| Basophil percentage of white cells | T | β 0.054 | 2E-41 | PubMed |
| Basophil percentage of granulocytes | T | β 0.052 | 1E-38 | PubMed |
| Basophil (fraction, maximum, inv-norm transformed) | C | β 0.075 | 1E-32 | PubMed |
| Basophil (fraction, minimum, inv-norm transformed) | C | β 0.084 | 2E-30 | PubMed |
| Basophil (fraction, minimum, inv-norm transformed) | C | β 0.058 | 1E-26 | PubMed |
| Basophil forward scatter distribution width | T | β 0.093 | 2E-23 | PubMed |
| Basophil (absolute count, mean, inv-norm transformed) | C | β 0.094 | 1E-21 | PubMed |
| Basophil (absolute count, maximum, inv-norm transformed) | C | β 0.082 | 5E-18 | PubMed |
| Basophil side fluorescence distribution width | T | β 0.08 | 1E-16 | PubMed |
| Basophil (absolute count, mean, inv-norm transformed) | C | β 0.049 | 2E-13 | PubMed |
| Basophil (absolute count, maximum, inv-norm transformed) | C | β 0.049 | 2E-12 | PubMed |
Sources
- dbSNP: rs4982731 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies