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rs429358 APOE

APOE e4/e4 homozygous. Substantially elevated risk for late-onset Alzheimer's disease (up to 12x).

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

What is rs429358?

rs429358 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 CC. The table below describes what studies associate with each genotype; the association is statistical, across populations, and is not a diagnosis.

What does each rs429358 genotype mean?

GenotypeAssociationWhat the evidence saysConfidence
CChighAPOE e4/e4 homozygous. Substantially elevated risk for late-onset Alzheimer's disease (up to 12x).95%
TC / CTelevatedAPOE e3/e4 heterozygous. Moderately elevated Alzheimer's risk (3-4x).92%
TTtypical / lowerAPOE e3/e3. Typical Alzheimer's risk.93%

How common is the C allele of rs429358?

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

European15.0%
East Asian9.0%
African27.0%
South Asian10.0%
Admixed American11.0%
Global15.0%

Which drugs have annotations for rs429358?

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

DrugAnnotation typeEvidence level
acenocoumarolToxicity, Efficacy, Dosage3
warfarinToxicity, Efficacy, Dosage3
Antivirals for treatment of HIV infectionsToxicity, Efficacy, Dosage3
combinationsToxicity3

Is rs429358 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.