Genetic variant
rs4253252
rs4253252 is a single-letter difference in human DNA, on chromosome 4. 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 rs4253252 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 rs4253252, 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
- rs4253252
- Position
- chr4:186236304
Genome-wide association studies (16)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| CD84/ITGA6 protein level ratio | — | OR 0.22 | 3E-237 | PubMed |
| LGMN/SPINT2 protein level ratio | — | OR 0.19 | 3E-172 | PubMed |
| Phenylalanine levels | T | β 0.085 | 2E-104 | PubMed |
| COL1A1/OMD protein level ratio | — | β 0.089 | 4E-41 | PubMed |
| DNAJB1/SIRT2 protein level ratio | — | β 0.086 | 9E-38 | PubMed |
| EIF4EBP1/PDCD5 protein level ratio | — | β 0.076 | 3E-28 | PubMed |
| DNAJB1/SMAD1 protein level ratio | — | β 0.071 | 5E-24 | PubMed |
| X-11792 levels | T | β 0.086 | 3E-22 | PubMed |
| RHOC/TIA1 protein level ratio | — | β 0.068 | 4E-22 | PubMed |
| TBC1D23/VPS53 protein level ratio | — | β 0.063 | 6E-20 | PubMed |
| DNPH1/EIF4EBP1 protein level ratio | — | β 0.061 | 1E-18 | PubMed |
| Metabolic traits | T | OR 0.24 | 7E-18 | PubMed |
| AKT1S1/FHIT protein level ratio | — | β 0.057 | 3E-16 | PubMed |
| SPRY2/YTHDF3 protein level ratio | — | β 0.056 | 8E-16 | PubMed |
| Serum metabolite levels | — | β 0.098 | 6E-14 | PubMed |
| BCR/GRAP2 protein level ratio | — | β 0.052 | 1E-13 | PubMed |
Sources
- dbSNP: rs4253252 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies