Genetic variant
rs4245791
rs4245791 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 rs4245791 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 rs4245791, 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
- rs4245791
- Position
- chr2:43847292
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Low density lipoprotein cholesterol levels | — | — | 1E-488 | PubMed |
| Total cholesterol levels | — | — | 5E-436 | PubMed |
| Non-HDL cholesterol levels | — | — | 2E-351 | PubMed |
| LDL cholesterol | T | β 0.06 | 6E-94 | PubMed |
| low density lipoprotein cholesterol (LDLC, maximum, inv-norm transformed) | C | β 0.055 | 5E-87 | PubMed |
| total cholesterol (maximum, inv-norm transformed) | C | β 0.054 | 6E-78 | PubMed |
| Total cholesterol levels | T | β 0.053 | 1E-72 | PubMed |
| low density lipoprotein cholesterol (LDLC, mean, inv-norm transformed) | C | β 0.051 | 8E-71 | PubMed |
| total cholesterol (mean, inv-norm transformed) | C | β 0.05 | 5E-66 | PubMed |
| Hyperlipidemia (PheCode 272.1) | C | β 0.097 | 7E-63 | PubMed |
| High cholesterol | C | β 0.089 | 8E-59 | PubMed |
| Phytosterol levels | C | OR 12 | 2E-50 | PubMed |
| Phospholipids to total lipids ratio in large LDL | T | β 0.061 | 1E-43 | PubMed |
| Total cholesterol in large LDL | T | β 0.062 | 5E-43 | PubMed |
| Cholesterol esters in large LDL | T | β 0.062 | 1E-42 | PubMed |
| Total cholesterol levels in LDL | T | β 0.062 | 2E-42 | PubMed |
| Free cholesterol in medium LDL | T | β 0.061 | 7E-42 | PubMed |
| Total lipids in large LDL | T | β 0.061 | 4E-41 | PubMed |
| Free cholesterol in small LDL | T | β 0.06 | 6E-41 | PubMed |
| Total Cholesterol in small LDL | T | β 0.061 | 1E-40 | PubMed |
Sources
- dbSNP: rs4245791 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies