Genetic variant
rs2144300
rs2144300 is a single-letter difference in human DNA, on chromosome 1. 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 rs2144300 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 rs2144300, 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
- rs2144300
- Position
- chr1:230159169
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| high density lipoprotein cholesterol (HDLC, mean, inv-norm transformed) | C | β 0.063 | 1E-75 | PubMed |
| triglyceride (minimum, inv-norm transformed) | C | β 0.051 | 2E-75 | PubMed |
| high density lipoprotein cholesterol (HDLC, minimm, inv-norm transformed) | C | β 0.059 | 4E-69 | PubMed |
| Ratio of triglycerides to phosphoglycerides | T | β 0.061 | 7E-50 | PubMed |
| High density lipoprotein cholesterol levels | C | β 0.043 | 7E-34 | PubMed |
| Triglycerides in medium VLDL | T | β 0.05 | 2E-33 | PubMed |
| Triglycerides in small VLDL | T | β 0.049 | 6E-33 | PubMed |
| Triglycerides to total lipids ratio in small VLDL | T | β 0.047 | 3E-31 | PubMed |
| Triglyceride levels in VLDL | T | β 0.047 | 3E-30 | PubMed |
| Mean diameter of VLDL particles | T | β 0.047 | 4E-30 | PubMed |
| Concentration of medium VLDL particles | T | β 0.046 | 3E-29 | PubMed |
| Total lipids in medium VLDL | T | β 0.046 | 2E-28 | PubMed |
| Phospholipids in medium VLDL | T | β 0.045 | 2E-27 | PubMed |
| Hyperglyceridemia (PheCode 272.12) | C | OR 0.11 | 4E-27 | PubMed |
| Triglycerides in large VLDL | T | β 0.044 | 5E-26 | PubMed |
| Free cholesterol in medium VLDL | T | β 0.043 | 6E-26 | PubMed |
| HDL cholesterol levels | T | β 0.044 | 2E-25 | PubMed |
| mean corpuscular hemoglobin concentration (MCHC, maximum, inv-norm transformed) | C | β 0.026 | 3E-24 | PubMed |
| Concentration of large VLDL particles | T | β 0.042 | 3E-24 | PubMed |
| Total lipids in large VLDL | T | β 0.041 | 1E-23 | PubMed |
Sources
- dbSNP: rs2144300 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies