Genetic variant
rs592423
rs592423 is a single-letter difference in human DNA, on chromosome 6. 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 rs592423 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 rs592423, 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
- rs592423
- Position
- chr6:139519556
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Immature fraction of reticulocytes | C | OR 0.11 | 2E-475 | PubMed |
| Mean reticulocyte volume | C | OR 0.1 | 2E-442 | PubMed |
| Mean corpuscular volume | C | OR 0.11 | 9E-406 | PubMed |
| High light scatter reticulocyte percentage of red cells | C | β 0.1 | 2E-395 | PubMed |
| Mean corpuscular volume | C | β 0.088 | 7E-390 | PubMed |
| Mean spheric corpuscular volume | C | β 0.099 | 3E-387 | PubMed |
| High light scatter reticulocyte count | C | β 0.094 | 2E-348 | PubMed |
| Mean corpuscular volume | A | OR 0.42 | 2E-327 | PubMed |
| Immature fraction of reticulocytes | C | OR 0.14 | 1E-322 | PubMed |
| mean corpuscular volume (MCV, mean, inv-norm transformed) | A | OR 0.12 | 9E-317 | PubMed |
| mean corpuscular volume (MCV, maximum, inv-norm transformed) | A | OR 0.11 | 3E-299 | PubMed |
| Mean corpuscular hemoglobin | C | β 0.076 | 2E-290 | PubMed |
| Mean corpuscular hemoglobin | C | β 0.081 | 3E-289 | PubMed |
| mean corpuscular volume (MCV, minimum, inv-norm transformed) | A | OR 0.11 | 3E-284 | PubMed |
| High light scatter reticulocyte percentage of red cells | C | OR 0.13 | 5E-284 | PubMed |
| Reticulocyte percentage (UKB data field 30240) | C | β 0.069 | 1E-272 | PubMed |
| mean corpuscular hemoglobin (MCH, maximum, inv-norm transformed) | A | OR 0.11 | 1E-255 | PubMed |
| High light scatter reticulocyte count | C | OR 0.12 | 1E-253 | PubMed |
| mean corpuscular hemoglobin (MCH, mean, inv-norm transformed) | A | OR 0.1 | 2E-252 | PubMed |
| Reticulocyte fraction of red cells | C | β 0.075 | 9E-234 | PubMed |
Sources
- dbSNP: rs592423 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies