Genetic variant
rs2954021
rs2954021 is a single-letter difference in human DNA, on chromosome 8. 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 rs2954021 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 rs2954021, 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
- rs2954021
- Position
- chr8:125469835
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Triglycerides | G | β 0.083 | 3E-377 | PubMed |
| Total cholesterol levels | A | β 0.058 | 5E-304 | PubMed |
| Low-density lipoprotein levels | A | β 0.051 | 3E-214 | PubMed |
| Glycine levels | G | β 0.089 | 1E-190 | PubMed |
| Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) | G | — | 9E-179 | PubMed |
| Alanine aminotransferase levels | A | β 0.037 | 3E-141 | PubMed |
| Total cholesterol levels | G | β 0.047 | 2E-127 | PubMed |
| Triglycerides | A | β 0.084 | 1E-112 | PubMed |
| Phospholipids in small VLDL | A | β 0.091 | 6E-111 | PubMed |
| Triglycerides in very small VLDL | A | β 0.091 | 3E-109 | PubMed |
| Red cell distribution width | A | β 0.042 | 1E-108 | PubMed |
| Serum total triglyceride levels | A | β 0.091 | 2E-108 | PubMed |
| Concentration of small VLDL particles | A | β 0.09 | 4E-108 | PubMed |
| Free cholesterol to total lipids ratio in large LDL | A | β 0.087 | 1E-107 | PubMed |
| Total lipids in small VLDL | A | β 0.089 | 3E-107 | PubMed |
| Alanine aminotransferase levels | A | β 0.009 | 5E-107 | PubMed |
| Triglyceride levels | G | β 0.065 | 5E-107 | PubMed |
| Triglyceride levels | A | β 0.074 | 7E-107 | PubMed |
| Red cell distribution width | A | — | 4E-106 | PubMed |
| Free cholesterol in small VLDL | A | β 0.088 | 3E-104 | PubMed |
Sources
- dbSNP: rs2954021 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies