Genetic variant
rs4800452
rs4800452 is a single-letter difference in human DNA, on chromosome 18. 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 rs4800452 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 rs4800452, 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
- rs4800452
- Position
- chr18:23147647
Genome-wide association studies (9)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Physical function (baseline) | C | β 0.023 | 6E-75 | PubMed |
| Body size (confirmatory factor analysis Factor 21) | — | — | 1E-50 | PubMed |
| Height | T | β 0.051 | 4E-30 | PubMed |
| Waist-to-hip ratio adjusted for BMI | T | β 0.018 | 2E-18 | PubMed |
| Waist circumference adjusted for BMI in active individuals | T | β 0.043 | 1E-17 | PubMed |
| Hand grip strength right (UKB data field 47) | T | β 0.014 | 7E-17 | PubMed |
| Height | — | β 0.048 | 6E-15 | PubMed |
| Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) | — | — | 2E-11 | PubMed |
| Hip circumference adjusted for BMI | T | β 0.05 | 7E-7 | PubMed |
Sources
- dbSNP: rs4800452 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies