Genetic variant
rs2943640
rs2943640 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 rs2943640 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 rs2943640, 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
- rs2943640
- Position
- chr2:226228869
Genome-wide association studies (19)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Triglyceride levels | — | β 0.042 | 1E-52 | PubMed |
| Phospholipid levels in large VLDL | A | β 0.039 | 2E-20 | PubMed |
| Weight (maximum, inv-normal transformed) | A | β 0.036 | 4E-20 | PubMed |
| Concentration of large VLDL particles | A | β 0.038 | 1E-19 | PubMed |
| Weight (mean, inv-normal transformed) | A | β 0.034 | 2E-18 | PubMed |
| Free cholesterol levels in large VLDL | A | β 0.036 | 4E-18 | PubMed |
| Free cholesterol levels in very large VLDL | A | β 0.036 | 4E-18 | PubMed |
| mean corpuscular hemoglobin concentration (MCHC, maximum, inv-norm transformed) | A | β 0.026 | 2E-17 | PubMed |
| mean corpuscular hemoglobin concentration (MCHC, mean, inv-norm transformed) | A | β 0.026 | 8E-16 | PubMed |
| Weight (minimum, inv-normal transformed) | A | β 0.029 | 1E-15 | PubMed |
| Type 2 diabetes | C | β 0.082 | 3E-15 | PubMed |
| Cholesterol levels in very large VLDL | A | β 0.032 | 2E-14 | PubMed |
| Type 2 diabetes | C | OR 1.1 | 3E-14 | PubMed |
| Cholesterol levels in large VLDL | A | β 0.031 | 1E-13 | PubMed |
| Concentration of small VLDL particles | A | β 0.028 | 8E-11 | PubMed |
| Cholesteryl ester levels in very large VLDL | A | β 0.027 | 2E-10 | PubMed |
| Type 2 diabetes | C | OR 1.09 | 7E-9 | PubMed |
| Familial combined hyperlipidemia defined by Dutch criteria | A | β 0.068 | 1E-8 | PubMed |
| Visceral adipose tissue/subcutaneous adipose tissue ratio | C | — | 4E-6 | PubMed |
Sources
- dbSNP: rs2943640 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies