Genetic variant
rs673548
rs673548 is a single-letter difference in human DNA, on chromosome 2. 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 rs673548 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
Polymorphisms of genes in the lipid metabolism pathway and risk of biliary tract cancers and stones:...
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 rs673548, 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
- rs673548
- Position
- chr2:21014672
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Apolipoprotein B levels | A | β 0.092 | 6E-219 | PubMed |
| Triglyceride levels | A | β 0.082 | 1E-173 | PubMed |
| Free Cholesterol to Total Lipids in Medium HDL percentage | A | β 0.06 | 2E-158 | PubMed |
| Phospholipids to Total Lipids in Large VLDL percentage | A | β 0.089 | 7E-152 | PubMed |
| Free Cholesterol in HDL | A | β 0.06 | 1E-147 | PubMed |
| Total Lipids in HDL | A | β 0.05 | 2E-138 | PubMed |
| Apolipoprotein A1 levels | A | β 0.05 | 2E-124 | PubMed |
| Phospholipids to Total Lipids in Chylomicrons and Extremely Large VLDL percentage | A | β 0.081 | 6E-121 | PubMed |
| High density lipoprotein cholesterol levels | A | β 0.071 | 2E-119 | PubMed |
| Apolipoprotein A1 levels | A | β 0.071 | 3E-117 | PubMed |
| Low density lipoprotein cholesterol levels | A | β 0.066 | 5E-112 | PubMed |
| Concentration of HDL particles | A | β 0.05 | 4E-102 | PubMed |
| Polyunsaturated fatty acids to monounsaturated fatty acids ratio | A | — | 4E-75 | PubMed |
| Triglycerides | G | β 0.079 | 1E-69 | PubMed |
| Cholesterol to total lipids ratio in medium HDL | G | β 0.084 | 4E-67 | PubMed |
| Phospholipids to total lipids ratio in very small VLDL | G | β 0.084 | 2E-64 | PubMed |
| Total concentration of lipoprotein particles | A | β 0.04 | 4E-62 | PubMed |
| High density lipoprotein cholesterol levels | G | β 0.065 | 1E-56 | PubMed |
| Sodium-coupled monocarboxylate transporter 1 levels | A | OR 0.26 | 9E-56 | PubMed |
| Total cholesterol levels | A | β 0.046 | 1E-55 | PubMed |
Sources
- dbSNP: rs673548 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies