Genetic variant
rs2731672
rs2731672 is a single-letter difference in human DNA, on chromosome 5. 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 rs2731672 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 rs2731672, 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
- rs2731672
- Position
- chr5:177415473
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Circulating vasoactive peptide levels | T | OR 4.61 | 1E-67 | PubMed |
| Phenylalanine levels | C | OR 12.29 | 1E-34 | PubMed |
| Plexin domain-containing protein 1 levels | T | OR 0.17 | 2E-31 | PubMed |
| Activated partial thromboplastin time | A | OR 0.45 | 2E-30 | PubMed |
| ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 levels | T | OR 0.32 | 6E-26 | PubMed |
| X-12038-to-bradykinin, des-arg 9 ratio | T | OR 0.18 | 6E-26 | PubMed |
| Glycoprotein acetyls levels | C | β 0.02 | 5E-24 | PubMed |
| Circulating chromogranin peptide levels | — | OR 0.39 | 2E-19 | PubMed |
| Serum levels of protein DBNL | T | OR 0.2 | 4E-19 | PubMed |
| Leucine levels | T | β 0.041 | 2E-18 | PubMed |
| Matrix extracellular phosphoglycoprotein levels | — | OR 0.29 | 4E-18 | PubMed |
| PCDH7 protein levels | C | β 0.058 | 1E-17 | PubMed |
| Serum levels of protein HBEGF | T | OR 0.18 | 3E-17 | PubMed |
| Phenylalanine levels | C | β 0.09 | 4E-16 | PubMed |
| Phospholipids to Total Lipids in Chylomicrons and Extremely Large VLDL percentage | C | β 0.02 | 3E-15 | PubMed |
| HGFAC protein levels | C | β 0.046 | 3E-15 | PubMed |
| Metabolite levels | — | — | 3E-14 | PubMed |
| Serum levels of protein HTN3 | T | OR 0.16 | 7E-14 | PubMed |
| High-sensitivity cardiac troponin I concentration | C | β 0.05 | 9E-14 | PubMed |
| Superoxide dismutase [Mn], mitochondrial level in Chronic kidney disease with hypertension and no diabetes (5008_51) | C | OR 0.48 | 6E-13 | PubMed |
Sources
- dbSNP: rs2731672 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies