Genetic variant
rs4680
rs4680 is a single-letter difference in human DNA, on chromosome 22. 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 rs4680 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
rs4680 (Val158Met) is a well studied SNP in the COMT gene. The COMT gene codes for the COMT enzyme, ...
From SNPedia
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 rs4680, 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
- rs4680
- Position
- chr22:19963748
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| COMT/HNRNPK protein level ratio | — | OR 0.76 | 4E-3035 | PubMed |
| CA13/COMT protein level ratio | — | OR 0.68 | 5E-2335 | PubMed |
| COMT/ITGB1BP2 protein level ratio | — | OR 0.64 | 1E-2112 | PubMed |
| ABHD14B/COMT protein level ratio | — | OR 0.65 | 7E-2054 | PubMed |
| COMT/RHOC protein level ratio | — | OR 0.61 | 4E-1820 | PubMed |
| X-11593 levels | A | OR 0.54 | 3E-613 | PubMed |
| 2-o-methylascorbic acid levels | A | OR 0.44 | 7E-226 | PubMed |
| 2-o-methylascorbic acid levels | A | OR 0.52 | 2E-185 | PubMed |
| X-11593--O-methylascorbate levels | A | β 0.049 | 5E-178 | PubMed |
| Plasma 2-O-methylascorbic acid levels in chronic kidney disease | A | OR 0.24 | 5E-174 | PubMed |
| Urine 2-O-methylascorbic acid levels in chronic kidney disease | A | OR 0.22 | 4E-161 | PubMed |
| X-12707 levels | A | OR 0.24 | 4E-120 | PubMed |
| Urine X-12708 levels in chronic kidney disease | A | OR 0.21 | 2E-60 | PubMed |
| Urinary metabolite modules (eigenmetabolites) in chronic kidney disease | G | β 0.012 | 5E-54 | PubMed |
| Serum metabolite levels | — | β 0.049 | 1E-48 | PubMed |
| Metabolite peak levels (QI2727) | A | OR 0.41 | 6E-39 | PubMed |
| X-12707 levels | A | OR 0.23 | 3E-32 | PubMed |
| Glucuronide of piperine metabolite c17h21no3 (4) (X-01911) levels | G | OR 0.18 | 1E-29 | PubMed |
| Urinary metabolite levels in chronic kidney disease | G | OR 0.23 | 2E-28 | PubMed |
| Urine glucuronide of piperine metabolite C17H21NO3 (5)* levels in chronic kidney disease | A | OR 0.27 | 1E-25 | PubMed |
Sources
- dbSNP: rs4680 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies