Genetic variant
rs4883201
rs4883201 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 rs4883201 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 rs4883201, 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
- rs4883201
- Position
- chr12:8929985
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| LGMN protein levels | G | OR 0.33 | 2E-305 | PubMed |
| IGF2R/LGMN protein level ratio | — | OR 0.42 | 1E-304 | PubMed |
| LGMN/TIMP1 protein level ratio | — | OR 0.41 | 5E-292 | PubMed |
| M6PR protein levels | G | OR 0.25 | 6E-133 | PubMed |
| Legumain levels | A | OR 0.41 | 3E-84 | PubMed |
| Height | G | β 0.019 | 2E-81 | PubMed |
| TPP1 protein levels | G | OR 0.16 | 3E-70 | PubMed |
| HPSE protein levels | G | OR 0.15 | 6E-58 | PubMed |
| Serum levels of protein HPSE | G | OR 0.44 | 2E-53 | PubMed |
| Total cholesterol levels | — | — | 7E-53 | PubMed |
| CTSS protein levels | G | OR 0.11 | 1E-50 | PubMed |
| IGF2R/RNASET2 protein level ratio | — | OR 0.16 | 2E-46 | PubMed |
| high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) | A | β 0.066 | 2E-44 | PubMed |
| high density lipoprotein cholesterol (HDLC, maximum, inv-norm transformed) | A | β 0.065 | 8E-44 | PubMed |
| Total cholesterol levels | G | β 0.033 | 7E-37 | PubMed |
| high density lipoprotein cholesterol (HDLC, minimm, inv-norm transformed) | A | β 0.059 | 4E-36 | PubMed |
| High density lipoprotein cholesterol levels | — | — | 8E-36 | PubMed |
| CPVL protein levels | G | β 0.057 | 1E-34 | PubMed |
| Low density lipoprotein cholesterol levels | — | — | 2E-28 | PubMed |
| IGF2R protein levels | G | β 0.09 | 4E-26 | PubMed |
Sources
- dbSNP: rs4883201 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies