Genetic variant
rs7412 a variant in the APOE gene
rs7412 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 Familial type 3 hyperlipoproteinemia and atorvastatin response - Efficacy, 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 rs7412 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
The ancestral allele is C. The rs7412(T) allele, also known as Arg176Cys, generally indicates the pr...
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
- Familial type 3 hyperlipoproteinemia
- atorvastatin response - Efficacy
- Hypercholesterolemia
- 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 rs7412, 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
- rs7412
- Gene
- APOE
- Position (GRCh38)
- chr19:44908821
- Variant type
- snv
- Consequence
- missense variant
- ClinVar classification
- drug response
Genome-wide association studies (20)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Low density lipoprotein cholesterol levels | — | — | 1E-9629 | PubMed |
| Low density lipoprotein cholesterol levels | T | OR 0.52 | 4E-6283 | PubMed |
| Apolipoprotein B levels | T | OR 0.75 | 4E-6067 | PubMed |
| Non-HDL cholesterol levels | — | — | 1E-4987 | PubMed |
| Total cholesterol levels | — | — | 5E-4551 | PubMed |
| Low density lipoprotein cholesterol levels | T | OR 0.6 | 2E-3838 | PubMed |
| Non-HDL cholesterol levels | T | OR 0.45 | 1E-3351 | PubMed |
| LDL cholesterol | T | OR 0.48 | 3E-3040 | PubMed |
| Total cholesterol levels | T | OR 0.35 | 2E-2868 | PubMed |
| Total cholesterol levels | T | OR 0.48 | 2E-2358 | PubMed |
| Cholesteryl Esters in Large LDL | T | OR 0.38 | 9E-2168 | PubMed |
| LDL cholesterol levels | T | OR 0.38 | 4E-2155 | PubMed |
| Total Lipids in LDL | T | OR 0.37 | 5E-2054 | PubMed |
| Phospholipids in medium LDL | T | OR 0.37 | 1E-2042 | PubMed |
| Cholesterol in Small LDL | T | OR 0.36 | 2E-1937 | PubMed |
| Cholesteryl Esters in LDL | T | OR 0.35 | 2E-1844 | PubMed |
| Phospholipids in IDL | T | OR 0.34 | 7E-1829 | PubMed |
| Total cholesterol levels | T | OR 0.35 | 5E-1765 | PubMed |
| Total cholesterol minus HDL-C levels | T | OR 0.33 | 1E-1645 | PubMed |
| Cholesterol in Medium LDL | T | OR 0.33 | 3E-1627 | PubMed |
How common the less frequent letter is
- gnomAD ALL
- 92.6%
- 1kG AFR
- 10.3%
- 1kG ALL
- 7.5%
- 1kG AMR
- 4.8%
- 1kG EAS
- 10%
- 1kG EUR
- 93.7%
- 1kG SAS
- 4.4%
Sources
- dbSNP: rs7412 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: APOE
- Ensembl: APOE
- GWAS Catalog — association studies