rs769449

This is a regulatory region variant variant in the APOE gene.

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GWAS Catalog Trait Associations (46)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

apolipoprotein B measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.31
p —
N 354,097
Major Consortium StudyLarge GWAS
multi-ancestry

C-reactive protein measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.26
p —
N 355,127
Major Consortium StudyLarge GWAS
multi-ancestry
Kocarnik JM et al. “Discovery, fine-mapping, and conditional analyses of genetic variants associated with C-reactive protein in multiethnic populations using the Metabochip in the Population Architecture using Genomics and Epidemiology (PAGE) study.” Human Molecular Genetics 27(16):2940-2953 (2018)
Allele A
OR 0.29
p 3.0e-38
N 30,503
Large GWAS
multi-ancestry

low density lipoprotein cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.25
p —
N 355,197
Major Consortium StudyLarge GWAS
multi-ancestry
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele A
OR 0.20
p 5.0e-136
N 94,674
Large GWAS
multi-ancestry
Huang QQ et al. “Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistani and Bangladeshi individuals.” Nature Communications 13(1):4664 (2022)
Allele A
OR 0.20
p 1.0e-17
N 22,000
Large GWAS
South Asian

total cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.22
p —
N 355,858
Major Consortium StudyLarge GWAS
multi-ancestry
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele A
OR 0.16
p 5.0e-95
N 94,674
Large GWAS
multi-ancestry
Huang QQ et al. “Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistani and Bangladeshi individuals.” Nature Communications 13(1):4664 (2022)
Allele A
OR 0.16
p 4.0e-14
N 22,000
Large GWAS
South Asian
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele A
OR 0.17
p 4.0e-14
N 8,809
Large GWAS
European

Alzheimer disease, family history of Alzheimer’s disease

Willett JDS et al. “Identification of 16 novel Alzheimer's disease loci using multi-ancestry meta-analyses.” Alzheimer's & Dementia : the Journal of the Alzheimer's Association 21(2):e14592 (2025)
Allele A
OR —
p 1.0e-291
N 404,467
Large GWAS
multi-ancestry

apolipoprotein A 1 measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.11
p 4.0e-191
N 323,833
Major Consortium StudyLarge GWAS
multi-ancestry

high density lipoprotein cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.09
p 4.0e-114
N 325,634
Major Consortium StudyLarge GWAS
multi-ancestry
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele A
OR —
β 0.092
p 1.0e-47
N 94,674
Large GWAS
multi-ancestry
Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele A
OR 0.10
p 4.0e-15
N 48,057
Large GWAS
Hispanic or Latin American
Huang QQ et al. “Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistani and Bangladeshi individuals.” Nature Communications 13(1):4664 (2022)
Allele A
OR 0.17
p 7.0e-18
N 22,000
Large GWAS
South Asian

amyloid-beta measurement

Ta M et al. “Genome-Wide Meta-Analysis of Cerebrospinal Fluid Biomarkers in Alzheimer's Disease and Parkinson's Disease Cohorts.” Movement Disorders : Official Journal of the Movement Disorder Society 38(9):1697-1705 (2023)
Allele A
OR 0.10
p 1.0e-107
N 5,411
Meta-analysis
European

Lewy body dementia

Chia R et al. “Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.” Nature Genetics 53(3):294-303 (2021)
Allele A
OR 2.32
p 3.0e-101
N 6,618
Large GWAS
European
Zhu P et al. “Genome-wide association study provides insights into the genetic basis of Lewy body dementia.” Molecular Psychiatry 30(12):5813-5827 (2025)
Allele A
OR 2.31
p 5.0e-94
N 8,953
Large GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →
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Research that mentions this SNP (1)

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Extreme cerebrospinal fluid amyloid β levels identify family with late‐onset Alzheimer's disease presenilin 1 mutation
ReviewJohn S. K. Kauwe et al.(2007)· Annals of Neurology

A review of genetic discoveries in Alzheimer's disease using cerebrospinal fluid (CSF) levels of amyloid-beta 42 (Aβ42) and phosphorylated tau (pTau181) as endophenotypes. The paper discusses multiple GWAS and sequencing studies that identified novel AD risk variants including rs9877502 (3q28, p=4.89×10⁻⁹), rs514716 in GLIS3 (p=1.07×10⁻⁸), and rs6922617 in TREM cluster (p=3.58×10⁻⁸), as well as functional characterization of known AD variants including APOE, MAPT, and TREM2. The review emphasizes the increased statistical power of using quantitative CSF biomarkers compared to traditional case-control designs.

Traits studied:AD progression rateAlzheimer's diseaseAmyloid depositionCerebrospinal fluid amyloid-beta 42 levelsCerebrospinal fluid phosphorylated tau (pTau181) levelsCerebrospinal fluid tau levelsCognitive declineTau pathology
PubMedDOIMetascience Observatory

About APOE

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. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by RefSeq, Jun 2016]

View all APOE variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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