Genetic variant
rs3184504
rs3184504 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 rs3184504 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
rs3184504 is a nonsynonymous SNP in the SH2B3 gene, and it is also known as R262W. In a recent (2008...
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 rs3184504, 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 related to
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
- rs3184504
- Position
- chr12:111446804
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Plateletcrit | C | OR 0.16 | 2E-775 | PubMed |
| Platelet count | C | OR 0.15 | 5E-616 | PubMed |
| Eosinophil count | C | OR 0.1 | 3E-480 | PubMed |
| Platelet count | C | β 0.096 | 7E-379 | PubMed |
| Lymphocyte count | C | β 0.092 | 3E-378 | PubMed |
| eosinophil (absolute count, maximum, inv-norm transformed) | T | OR 0.11 | 1E-323 | PubMed |
| White blood cell count | C | β 0.067 | 4E-293 | PubMed |
| platelet count (minimum, inv-norm transformed) | T | β 0.098 | 2E-291 | PubMed |
| White blood cell count | C | — | 8E-290 | PubMed |
| Hypothyroidism | C | OR 0.17 | 3E-268 | PubMed |
| Platelet count | T | — | 8E-263 | PubMed |
| Cystatin C plasma levels | — | — | 4E-243 | PubMed |
| White blood cell count | C | β 0.071 | 2E-228 | PubMed |
| eosinophil (fraction, maximum, inv-norm transformed) | T | β 0.09 | 1E-224 | PubMed |
| Estimated glomerular filtration rate (cystatin c) | C | β 0.065 | 2E-223 | PubMed |
| White blood cell count | — | — | 8E-222 | PubMed |
| Plateletcrit | C | OR 0.11 | 5E-216 | PubMed |
| NCR1 protein levels | C | OR 0.16 | 6E-215 | PubMed |
| FASLG protein levels | C | OR 0.13 | 1E-203 | PubMed |
| White blood cell count | T | β 0.063 | 2E-188 | PubMed |
Sources
- dbSNP: rs3184504 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies