Genetic variant
rs2287622
rs2287622 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 rs2287622 is the catalogue number of one of them. Which letters you carry there — one copy from each parent — is your genotype.
rs2287622 is a SNP in the ATP-binding cassette, sub-family B (MDR/TAP), member 11 ABCB11 gene. The m...
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 rs2287622, 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
- rs2287622
- Position
- chr2:168973818
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Cholesterol levels (UKB data field 30690) | G | β 0.023 | 5E-29 | PubMed |
| LDL cholesterol levels | A | β 0.021 | 3E-23 | PubMed |
| Phospholipids in IDL | G | β 0.02 | 5E-18 | PubMed |
| Total lipids in IDL | G | β 0.02 | 4E-17 | PubMed |
| Total esterified cholesterol levels | G | β 0.02 | 1E-16 | PubMed |
| Polyunsaturated fatty acid levels | G | β 0.02 | 2E-16 | PubMed |
| Total cholesterol levels | G | β 0.02 | 3E-16 | PubMed |
| Omega-6 fatty acids levels | G | β 0.02 | 6E-16 | PubMed |
| Cholesteryl Esters in IDL | G | β 0.02 | 7E-16 | PubMed |
| Cholesterol esters in very small VLDL | G | β 0.02 | 1E-15 | PubMed |
| Cholesterol in IDL | G | β 0.02 | 1E-15 | PubMed |
| Cholesterol levels in very small VLDL | G | β 0.02 | 2E-15 | PubMed |
| Total free cholesterol levels | G | β 0.02 | 4E-15 | PubMed |
| Linoleic acid levels | G | β 0.02 | 9E-15 | PubMed |
| Total lipids in very small VLDL | G | β 0.02 | 3E-14 | PubMed |
| Concentration of IDL particles | G | β 0.02 | 3E-14 | PubMed |
| Concentration of very small VLDL particles | G | β 0.02 | 3E-14 | PubMed |
| Phospholipids in very small VLDL | G | β 0.02 | 7E-14 | PubMed |
| Free cholesterol in very small VLDL | G | β 0.02 | 8E-14 | PubMed |
| Concentration of large LDL particles | G | β 0.02 | 1E-13 | PubMed |
Sources
- dbSNP: rs2287622 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- GWAS Catalog — association studies