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rs7412 APOE

APOE e2/e2. Protective against Alzheimer's but increased risk for type III hyperlipoproteinemia.

Curated · human-reviewed Health risk · Risk / effect allele: T · dbSNP

What is rs7412?

rs7412 is a single-nucleotide polymorphism (SNP) in the APOE gene (Apolipoprotein E). Each person carries two copies, one from each parent, so a result is reported as a pair of letters such as TT. The table below describes what studies associate with each genotype; the association is statistical, across populations, and is not a diagnosis.

What does each rs7412 genotype mean?

GenotypeAssociationWhat the evidence saysConfidence
TTtypical / lowerAPOE e2/e2. Protective against Alzheimer's but increased risk for type III hyperlipoproteinemia.90%
CT / TCtypical / lowerAPOE e2 carrier. Mildly protective against Alzheimer's.85%
CCtypicalNo APOE e2 allele. Interpret with rs429358 for full APOE haplotype.88%

How common is the T allele of rs7412?

Minor-allele frequency by population (gnomAD / 1000 Genomes):

European8.0%
East Asian10.0%
African10.0%
South Asian5.0%
Admixed American6.0%
Global8.0%

Which drugs have annotations for rs7412?

PharmGKB clinical annotations (level 1A is the strongest evidence, 4 the weakest):

DrugAnnotation typeEvidence level
atorvastatinEfficacy, Toxicity, Dosage2B
Antivirals for treatment of HIV infectionsEfficacy, Toxicity, Dosage2B
combinationsEfficacy, Toxicity, Dosage2B
ritonavirEfficacy2B

Is rs7412 on 23andMe and AncestryDNA chips?

Yes — it is genotyped directly on 23andMe V3, 23andMe V4, 23andMe V5, AncestryDNA V1, AncestryDNA V2. Orviva reads it from a raw-data export without imputation.

Sources

Genetic associations describe risk across populations, not a diagnosis for any one person. Most variants shift risk modestly and act alongside lifestyle, environment and other genes. Consumer DNA chips do not read every position and can be wrong at any single one. For general education only; talk to a clinician or genetic counsellor before acting on anything here, and never change a prescribed medicine without your prescriber.