Genetic variant
rs2066718 a variant in the ABCA1 gene
rs2066718 is a single-letter difference in the ABCA1 gene, on chromosome 9. ClinVar, the public archive of variant interpretations, lists it as conflicting interpretations: laboratories that have assessed it do not agree on whether it matters. It has been reported in connection with Tangier disease and Hypoalphalipoproteinemia, primary, among others. 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 rs2066718 is the catalogue number of one of them, in the ABCA1 gene. Which letters you carry there — one copy from each parent — is your genotype.
ABCA1 (ATP binding cassette subfamily A member 1): The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily.
Gene description from NCBI Gene
ABCA1 rs2230805 and rs2230806 common gene variants are associated with Alzheimer's disease.
From SNPedia
Why might it matter?
ClinVar records this variant as conflicting interpretations, meaning laboratories that have assessed it do not agree on whether it matters. A classification describes the variant, not you: what it means for one person depends on their genotype, their family history and often on other genes and circumstances.
Conditions it has been reported with
- Tangier disease
- Hypoalphalipoproteinemia, primary
- 1
Listed in ClinVar submissions for this variant. Being listed is a report of an association, not a statement that the variant causes the condition in any given person.
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 rs2066718, 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
- rs2066718
- Gene
- ABCA1
- Position
- chr9:104826974
- ClinVar classification
- Conflicting classifications of pathogenicity
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Apolipoprotein A1 levels | T | OR 0.12 | 3E-63 | PubMed |
| High density lipoprotein cholesterol levels | T | OR 0.11 | 1E-49 | PubMed |
| Cholesterol to Total Lipids in Large LDL percentage | T | β 0.08 | 9E-41 | PubMed |
| Phospholipids to total lipids ratio in medium HDL | C | OR 0.12 | 2E-25 | PubMed |
| Linoleic acid to total fatty acids percentage | T | β 0.05 | 1E-18 | PubMed |
| Free cholesterol to total lipids ratio in medium HDL | C | β 0.093 | 1E-17 | PubMed |
| Cholesterol to total lipids ratio in large LDL | C | OR 0.1 | 2E-17 | PubMed |
| Free cholesterol to total lipids ratio in small HDL | C | β 0.095 | 4E-16 | PubMed |
| HDL cholesterol levels | C | β 0.082 | 6E-14 | PubMed |
| Total cholesterol to total lipids ratio in very large HDL | T | β 0.092 | 9E-14 | PubMed |
| Cholesteryl ester levels in HDL | C | β 0.082 | 1E-13 | PubMed |
| Total cholesterol levels | T | β 0.05 | 8E-13 | PubMed |
| Cholesteryl esters to total lipids ratio in very large HDL | T | β 0.088 | 1E-12 | PubMed |
| Free Cholesterol to Total Lipids in Medium LDL percentage | T | β 0.04 | 2E-12 | PubMed |
| Cholesterol to Total Lipids in IDL percentage | T | β 0.04 | 5E-12 | PubMed |
| Phospholipids to total lipids ratio in very large HDL | T | β 0.085 | 1E-11 | PubMed |
| Cholesteryl Esters to Total Lipids in IDL percentage | T | β 0.04 | 2E-11 | PubMed |
| Cholesterol to Total Lipids in Small HDL percentage | T | β 0.04 | 2E-11 | PubMed |
| Linoleic acid to total fatty acids percentage | T | — | 3E-11 | PubMed |
| Triglycerides to total lipids ratio in large VLDL | C | β 0.076 | 5E-10 | PubMed |
Sources
- dbSNP: rs2066718 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: ABCA1
- Ensembl: ABCA1
- GWAS Catalog — association studies