Genetic variant
rs342293
rs342293 is a single-letter difference in human DNA, on chromosome 7. 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 rs342293 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
Influences blood volume and platelet count Determinants of platelet count in humans. [GWAS:MPV]
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 rs342293, 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
- rs342293
- Position
- chr7:106731773
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Mean platelet volume | G | OR 0.16 | 8E-1151 | PubMed |
| Mean platelet volume | G | OR 0.16 | 1E-431 | PubMed |
| Platelet distribution width | G | β 0.096 | 3E-395 | PubMed |
| Platelet count | G | — | 1E-318 | PubMed |
| Platelet count | C | β 0.062 | 4E-256 | PubMed |
| SNAP25 protein levels | G | OR 0.15 | 1E-175 | PubMed |
| ITGB1BP2/MITD1 protein level ratio | — | OR 0.19 | 1E-163 | PubMed |
| Immature platelet fraction | G | OR 0.2 | 6E-163 | PubMed |
| platelet count (mean, inv-norm transformed) | C | β 0.075 | 9E-157 | PubMed |
| Immature platelet count | G | OR 0.19 | 1E-155 | PubMed |
| High fluorescence immature platelet fraction | G | OR 0.19 | 3E-155 | PubMed |
| platelet count (mean, inv-norm transformed) | C | β 0.07 | 6E-122 | PubMed |
| Platelet large cell ratio | G | OR 0.16 | 5E-120 | PubMed |
| platelet count (minimum, inv-norm transformed) | C | β 0.061 | 3E-114 | PubMed |
| DKK1/PDGFA protein level ratio | — | OR 0.15 | 1E-110 | PubMed |
| PDLIM7/SRC protein level ratio | — | OR 0.15 | 8E-107 | PubMed |
| platelet count (maximum, inv-norm transformed) | C | β 0.062 | 1E-106 | PubMed |
| ITGB1BP2/LAT2 protein level ratio | — | OR 0.15 | 2E-106 | PubMed |
| Platelet side fluorescence | G | OR 0.17 | 7E-104 | PubMed |
| platelet count (minimum, inv-norm transformed) | C | β 0.061 | 7E-104 | PubMed |
Sources
- dbSNP: rs342293 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies