Genetic variant
rs405509 a variant in the APOE gene
rs405509 is a single-letter difference in the APOE gene, on chromosome 19. ClinVar, the public archive of variant interpretations, lists it as drug response: linked to how the body handles certain medicines. It has been reported in connection with Coronary artery disease, severe, susceptibility to and Warfarin response. 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 rs405509 is the catalogue number of one of them, in the APOE gene. Which letters you carry there — one copy from each parent — is your genotype.
APOE (apolipoprotein E): The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes.
Gene description from NCBI Gene
obstructive sleep apnea rs405509 Significant Alzheimer's disease associations with were found for rs...
From SNPedia
Why might it matter?
ClinVar records this variant as drug response, meaning linked to how the body handles certain medicines. 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
- Coronary artery disease, severe, susceptibility to
- Warfarin response
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 rs405509, 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 related to APOE
APOE variants affect lipid metabolism and cardiovascular risk. Monitor cholesterol panel.
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
- rs405509
- Gene
- APOE
- Position (GRCh38)
- chr19:44905578
- Variant type
- snv
- Consequence
- regulatory region variant
- ClinVar classification
- drug response
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Linoleic acid to total fatty acids percentage | T | — | 1E-40 | PubMed |
| Linoleic acid to total fatty acids percentage | T | — | 2E-39 | PubMed |
| Alzheimer's disease | G | OR 0.68 | 3E-38 | PubMed |
| APOE protein levels | — | OR 0.38 | 3E-32 | PubMed |
| Polyunsaturated fatty acids to saturated fatty acids ratio | T | — | 7E-25 | PubMed |
| Linoleic acid to total fatty acids percentage | T | — | 3E-24 | PubMed |
| Linoleic acid to total fatty acids percentage | T | — | 5E-22 | PubMed |
| Alzheimer's disease | T | OR 1.61 | 2E-21 | PubMed |
| Total fatty acid levels | T | — | 2E-20 | PubMed |
| Linoleic acid to total fatty acids percentage | T | — | 3E-20 | PubMed |
| Polyunsaturated fatty acids to saturated fatty acids ratio | T | — | 3E-17 | PubMed |
| Linoleic acid to total fatty acids percentage | T | — | 4E-17 | PubMed |
| Monounsaturated fatty acid levels | T | — | 1E-16 | PubMed |
| Polyunsaturated fatty acids to saturated fatty acids ratio | T | — | 1E-13 | PubMed |
| Degree of unsaturation | T | — | 1E-12 | PubMed |
| Polyunsaturated fatty acids to saturated fatty acids ratio | T | — | 1E-12 | PubMed |
| Total fatty acid levels | T | — | 1E-12 | PubMed |
| HDL cholesterol levels x short total sleep time interaction (2df test) | — | β 0.008 | 3E-12 | PubMed |
| Serum metabolite levels (CMS) | — | β 0.044 | 4E-12 | PubMed |
| Monounsaturated fatty acid levels | T | — | 7E-12 | PubMed |
ClinVar submissions (7)
How common the less frequent letter is
- 1kG AFR
- 23.7%
- 1kG ALL
- 47.2%
- 1kG AMR
- 49.7%
- 1kG EAS
- 33.3%
- 1kG EUR
- 48.4%
- 1kG SAS
- 44.6%
Sources
- dbSNP: rs405509 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: APOE
- Ensembl: APOE
- GWAS Catalog — association studies