Genetic variant
rs562338
rs562338 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 rs562338 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
Repeatedly associated with elevated lipids according to Genome-wide association study identifies gen...
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 rs562338, 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
- rs562338
- Position
- chr2:21065449
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Total cholesterol levels | G | β 0.093 | 1E-207 | PubMed |
| Concentration of large LDL particles | G | β 0.08 | 1E-201 | PubMed |
| Total Lipids in LDL | G | β 0.08 | 3E-184 | PubMed |
| Total lipids in small LDL | G | β 0.07 | 4E-173 | PubMed |
| Cholesteryl Esters in LDL | G | β 0.07 | 4E-168 | PubMed |
| Phospholipids in medium LDL | G | β 0.07 | 3E-164 | PubMed |
| Total free cholesterol levels | G | β 0.07 | 4E-162 | PubMed |
| Cholesterol in Small LDL | G | β 0.07 | 2E-153 | PubMed |
| Total Lipids in Medium LDL | G | β 0.07 | 2E-143 | PubMed |
| Low density lipoprotein cholesterol levels | A | OR 0.14 | 4E-140 | PubMed |
| Cholesterol in Medium LDL | G | β 0.07 | 7E-133 | PubMed |
| Phospholipid levels in small LDL | A | OR 0.13 | 3E-124 | PubMed |
| Concentration of large LDL particles | A | OR 0.12 | 3E-110 | PubMed |
| Phospholipid levels in IDL | A | OR 0.11 | 1E-104 | PubMed |
| Total lipid levels in lipoprotein particles | G | β 0.06 | 2E-103 | PubMed |
| Total phospholipid levels in lipoprotein particles | G | β 0.05 | 4E-98 | PubMed |
| Total lipid levels in large LDL | A | OR 0.11 | 8E-95 | PubMed |
| Phospholipids in small LDL (UKB data field 23546) | A | OR 0.13 | 1E-94 | PubMed |
| Cholesteryl ester levels in large LDL | A | OR 0.11 | 2E-93 | PubMed |
| Total lipid levels in IDL | A | OR 0.11 | 3E-93 | PubMed |
Sources
- dbSNP: rs562338 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies