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The C (minor) allele is associated with:

  • One C = Bad version = Less APOE4.
  • CT: >3x increased risk for Alzheimer's; 1.4x increased risk for heart disease  

rs429358

Parent Gene: APOE
Minor Allele: None = None
Major Allele: T = 84.90%
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Disease/Trait: Cerebral Amyloid Deposition Measurement

Cerebral amyloid deposition measurement (P=5.00*10-20)
Risk Allele: C
Reported risk allele frequency: 85.00%
Impact: 9.3010299957 
Odds Ratio: 4.72 
Reported genes: APOE
Context: missense_variant
Study title: Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aβ1-42 Level. (R)
Initial sample size: up to 350 European and other ancestry positive individuals, up to 296 European and other ancestry negative individuals
Replication sample size:
Journal: PLoS One (R)
Year published: Aug. 7, 2015
Strength of evidence: Strong

Disease/Trait: High Density Lipoprotein Cholesterol Measurement

High density lipoprotein cholesterol measurement (P=1.00*10-14)
Risk Allele: T
Reported risk allele frequency: 84.00%
Impact: 14.0 
Odds Ratio: 0.066 
Reported genes: APOE
Context: missense_variant
Study title: The impact of low-frequency and rare variants on lipid levels. (R)
Initial sample size: up to 62,166 European ancestry individuals
Replication sample size:
Journal: Nat Genet (R)
Year published: May 11, 2015
Strength of evidence: Strong

Disease/Trait: Cerebral Amyloid Deposition Measurement

Cerebral amyloid deposition measurement (P=8.00*10-32)
Risk Allele: T
Reported risk allele frequency: 2.00%
Impact: 1.096910013 
Odds Ratio: 0.13 
Reported genes: APOE
Context: missense_variant
Study title: Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aβ1-42 Level. (R)
Initial sample size: up to 883 European and other ancestry individuals
Replication sample size:
Journal: PLoS One (R)
Year published: Aug. 7, 2015
Strength of evidence: Strong

Disease/Trait: Neuroimaging Measurement

Neuroimaging measurement (P=None)
Risk Allele: None
Reported risk allele frequency: None
Impact: None 
Odds Ratio: None 
Reported genes: APOE
Context: missense_variant
Study title: Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort. (R)
Initial sample size: 175 European ancestry Alzheimer cases, 354 European ancestry amnestic mild cognitive impairment cases, 204 European ancestry controls
Replication sample size:
Journal: Neuroimage (R)
Year published: Jan. 22, 2010
Strength of evidence: Strong