rs7412(APOE)

This is a variant in the APOE gene that changes a arginine to an cysteine.

Trait Associations

Trait	Risk Allele	OR	p-value	Evidence	Source
Alzheimer's Disease (Protective) The T allele defines the APOE ε2 isoform, which is protective against Alzheimer's disease. Carriers have approximately 40% reduced risk. The ε2 isoform enhances amyloid-β clearance from the brain.	T	0.56	1.0e-50	high	PubMed

Trait

Risk Allele

p-value

Evidence

Source

Alzheimer's Disease (Protective)

The T allele defines the APOE ε2 isoform, which is protective against Alzheimer's disease. Carriers have approximately 40% reduced risk. The ε2 isoform enhances amyloid-β clearance from the brain.

0.56

1.0e-50

high

PubMed

ClinVar

Drug Response★★★★

12 submitters

Familial type 3 hyperlipoproteinemia; atorvastatin response - Efficacy; not provided; Warfarin response; Hypercholesterolemia; not specified

View on ClinVar →

Included in Polygenic Scores

PGS000018—Coronary artery disease
PGS000039—Ischemic stroke
PGS004008—Alzheimer's disease
PGS002753—Alzheimer's disease
PGS003992—Alzheimer's disease

Gene information from NCBI Gene. Variant classifications from ClinVar.