Genetic variant
rs4766578
rs4766578 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 rs4766578 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 rs4766578, 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
- rs4766578
- Position
- chr12:111466567
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Diastolic blood pressure | — | OR 0.43 | 3E-106 | PubMed |
| High light scatter reticulocyte count | A | β 0.066 | 3E-75 | PubMed |
| Reticulocyte fraction of red cells | A | β 0.063 | 2E-69 | PubMed |
| High light scatter reticulocyte percentage of red cells | A | β 0.059 | 2E-60 | PubMed |
| red blood cell count (RBC, maximum, inv-norm transformed) | T | β 0.034 | 1E-39 | PubMed |
| Type 2 diabetes mellitus adjusted for BMI or coronary artery disease (pleiotropy) | — | — | 6E-36 | PubMed |
| Smoking initiation | A | β 0.01 | 2E-30 | PubMed |
| monocyte (absolute count, minimum, inv-norm transformed) | T | β 0.04 | 4E-30 | PubMed |
| Gout | A | OR 0.95 | 3E-29 | PubMed |
| Essential hypertension (PheCode 401.1) | T | β 0.054 | 5E-29 | PubMed |
| diastolic blood pressure (DBP, mean, inv-normal transformed) | T | β 0.032 | 1E-28 | PubMed |
| Coronary artery disease | — | — | 2E-28 | PubMed |
| Hypertension (PheCode 401) | T | β 0.053 | 8E-28 | PubMed |
| Aspartate aminotransferase (AST, mean, inv-norm transformed) | T | β 0.027 | 2E-25 | PubMed |
| CCL19 protein levels | A | β 0.056 | 3E-25 | PubMed |
| Peripheral vascular disease | T | β 0.069 | 5E-24 | PubMed |
| sodium (minimum, inv-norm transformed) | T | β 0.026 | 3E-23 | PubMed |
| Right ventricular end diastolic volume | T | — | 9E-23 | PubMed |
| Peripheral vascular disease, unspecified (PheCode 443.9) | T | β 0.069 | 1E-22 | PubMed |
| low density lipoprotein cholesterol (LDLC, maximum, inv-norm transformed) | T | β 0.027 | 2E-22 | PubMed |
Sources
- dbSNP: rs4766578 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies