rs12721046

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GWAS Catalog Trait Associations (10)

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

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 5.0e-231

N 404,467

Large GWAS

multi-ancestry

Alzheimer disease

Allele A

OR —

p 7.0e-159

N 27,907

Large GWAS

European, African unspecified, Hispanic or Latin American, Asian unspecified, NR

poliovirus receptor measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.08

p 4.0e-28

N 47,745

Large GWAS

European

total lipids in HDL measurement

Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)

Allele A

OR 0.05

p 2.0e-16

N 88,329

Large GWAS

European

free cholesterol in medium HDL measurement

Allele A

OR 0.05

p 2.0e-15

N 88,329

Large GWAS

European

cerebral amyloid deposition measurement

Yan Q et al. “Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging.” Molecular Psychiatry 26(1):309-321 (2021)

Allele A

OR 0.13

p 1.0e-14

N 983

Small GWAS

European

fatty acid amount

Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)

Allele A

OR —

p 6.0e-11

N 110,346

Large GWAS

European

cholesteryl ester measurement

Allele A

OR 0.04

p 5.0e-10

N 88,329

Large GWAS

European

phospholipids in large HDL measurement

Allele A

OR 0.04

p 6.0e-10

N 88,329

Large GWAS

European

white matter integrity, age at assessment

Traylor M et al. “The BS variant of C4 protects against age-related loss of white matter microstructural integrity.” Brain : a Journal of Neurology 145(1):295-304 (2022)

Allele A

OR —

p 2.0e-8

N 31,128

Large GWAS

European

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Research that mentions this SNP (1)

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Haplotype architecture of the Alzheimer's risk in the APOE region via co‐skewness

AssociationN=19,123Alexander M. Kulminski et al.(2020)· Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring

This study examined 4960 SNP triples from five genes in the APOE region (BCAM, NECTIN2, TOMM40, APOE, APOC1) in 2789 Alzheimer's disease cases and 16,334 controls using a novel co-skewness metric to identify complex haplotypes associated with AD. The authors identified 1127 significant AD-associated SNP triples, demonstrating that complex multi-SNP haplotypes—which may not include the canonical APOE ε4 or ε2 alleles—play definitive roles in AD predisposition, with the ε4 allele showing strengthened connections to other region alleles and ε2 showing weakened connections in affected subjects.

Traits studied:Alzheimer's disease

PubMed DOI Metascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

rs12721046

GWAS Catalog Trait Associations (10)

Alzheimer disease, family history of Alzheimer’s disease

Alzheimer disease

poliovirus receptor measurement

total lipids in HDL measurement

free cholesterol in medium HDL measurement

cerebral amyloid deposition measurement

fatty acid amount

cholesteryl ester measurement

phospholipids in large HDL measurement

white matter integrity, age at assessment

Research that mentions this SNP (1)

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