Genetic variant
rs693
rs693 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 rs693 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
rs693 increases susceptibility to Elevated Apolipoprotein B and LDL-Cholesterol for carriers of the ...
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 rs693, 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
- rs693
- Position
- chr2:21009323
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Cholesteryl Esters in Small VLDL | A | β 0.07 | 2E-245 | PubMed |
| Cholesterol in Small VLDL | A | β 0.07 | 9E-240 | PubMed |
| Free cholesterol in small VLDL | A | β 0.07 | 3E-228 | PubMed |
| Cholesterol in Medium VLDL | A | β 0.06 | 5E-206 | PubMed |
| Free cholesterol in medium VLDL | A | β 0.06 | 5E-203 | PubMed |
| Phospholipids in very small VLDL | A | β 0.06 | 7E-195 | PubMed |
| Cholesteryl Esters in VLDL | A | β 0.06 | 4E-193 | PubMed |
| Concentration of LDL particles | A | β 0.06 | 2E-191 | PubMed |
| Free cholesterol in very small VLDL | A | β 0.06 | 8E-179 | PubMed |
| Total lipids in very small VLDL | A | β 0.06 | 4E-175 | PubMed |
| Apolipoprotein B levels | A | β 0.06 | 3E-174 | PubMed |
| Concentration of small LDL particles | A | β 0.06 | 7E-174 | PubMed |
| Concentration of very small VLDL particles | A | β 0.06 | 2E-172 | PubMed |
| Ratio of apolipoprotein B to apolipoprotein A1 levels | A | β 0.06 | 1E-167 | PubMed |
| Triglycerides to Total Lipids in Large VLDL percentage | A | β 0.06 | 2E-164 | PubMed |
| Concentration of medium LDL particles | A | β 0.05 | 3E-149 | PubMed |
| Cholesteryl Esters in Small LDL | A | β 0.05 | 2E-141 | PubMed |
| Remnant cholesterol (non-HDL, non-LDL -cholesterol) | A | β 0.05 | 5E-134 | PubMed |
| Cholesteryl ester levels in small VLDL | G | OR 0.1 | 1E-132 | PubMed |
| Cholesteryl Esters in Medium LDL | A | β 0.05 | 2E-132 | PubMed |
Sources
- dbSNP: rs693 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies