Genetic variant
rs385893
rs385893 is a single-letter difference in human DNA, on chromosome 9. 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 rs385893 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
Determinants of platelet count in humans. [GWAS:Hematological parameters]
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 rs385893, 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
- rs385893
- Position
- chr9:4763176
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Platelet count | C | β 0.091 | 1E-460 | PubMed |
| platelet count (mean, inv-norm transformed) | T | OR 0.11 | 2E-281 | PubMed |
| Platelet count | T | — | 4E-243 | PubMed |
| platelet count (minimum, inv-norm transformed) | T | β 0.094 | 5E-230 | PubMed |
| Platelet count | T | OR 0.1 | 1E-109 | PubMed |
| Platelet-to-lymphocyte ratio | T | — | 6E-109 | PubMed |
| Platelet count | C | β 0.074 | 1E-83 | PubMed |
| Platelet count | T | β 0.08 | 2E-75 | PubMed |
| GP1BA protein levels | C | β 0.09 | 9E-65 | PubMed |
| Platelet count | — | — | 6E-63 | PubMed |
| Platelet count | — | β 0.077 | 4E-55 | PubMed |
| Platelet count | — | OR 5.11 | 5E-50 | PubMed |
| SDC4 protein levels | C | β 0.073 | 6E-46 | PubMed |
| platelet count (mean, inv-norm transformed) | T | β 0.081 | 9E-40 | PubMed |
| Blood cell traits latent factor 10 (platelet) | — | — | 3E-36 | PubMed |
| Neutrophill count (UKB data field 30140) | C | β 0.024 | 1E-35 | PubMed |
| Lymphocyte percentage (UKB data field 30180) | C | β 0.024 | 2E-35 | PubMed |
| platelet count (maximum, inv-norm transformed) | T | β 0.075 | 3E-34 | PubMed |
| Neutrophil count | C | β 0.023 | 8E-34 | PubMed |
| Neutrophill percentage (UKB data field 30200) | C | β 0.024 | 2E-33 | PubMed |
Sources
- dbSNP: rs385893 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies