Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs405509
rs405509
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
T 0.900 GeneticVariation GWASCAT Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities. 30636644

2019

dbSNP: rs405509
rs405509
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
T 0.900 GeneticVariation GWASDB Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies. 24755620

2014

dbSNP: rs405509
rs405509
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation GWASDB Genome-wide association study of Alzheimer's disease. 22832961

2012

dbSNP: rs405509
rs405509
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation GWASDB Genome-wide association study of Alzheimer's disease with psychotic symptoms. 22005930

2012

dbSNP: rs405509
rs405509
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation GWASDB Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. 21460841

2011

dbSNP: rs405509
rs405509
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation GWASDB Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE. 21379329

2011

dbSNP: rs405509
rs405509
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation GWASDB Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities. 20885792

2010

dbSNP: rs405509
rs405509
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation GWASDB Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. 19734903

2009

dbSNP: rs405509
rs405509
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation GWASDB Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease. 19136949

2009

dbSNP: rs429358
rs429358
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.890 GeneticVariation GWASCAT Genetic heterogeneity of Alzheimer's disease in subjects with and without hypertension. 31055733

2019

dbSNP: rs429358
rs429358
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
C 0.890 GeneticVariation GWASCAT Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project. 31473137

2019

dbSNP: rs429358
rs429358
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.890 GeneticVariation GWASCAT Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities. 30636644

2019

dbSNP: rs429358
rs429358
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.890 GeneticVariation GWASCAT SUCLG2 identified as both a determinator of CSF Aβ1-42 levels and an attenuator of cognitive decline in Alzheimer's disease. 25027320

2014

dbSNP: rs429358
rs429358
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
C 0.890 GeneticVariation GWASCAT APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. 23419831

2014

dbSNP: rs429358
rs429358
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.890 GeneticVariation GWASCAT Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort. 21123754

2011

dbSNP: rs429358
rs429358
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
C 0.890 GeneticVariation CLINVAR

dbSNP: rs121918394
rs121918394
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III
0.860 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670

2012

dbSNP: rs121918394
rs121918394
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III
0.860 GeneticVariation UNIPROT Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia. 22481068

2012

dbSNP: rs121918394
rs121918394
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III
0.860 GeneticVariation UNIPROT We have identified a kindred in which heterozygosity for an apoE mutant, apoE-1 (Lys146-->Glu), is dominantly associated with the expression of type III hyperlipoproteinemia. 7635945

1995

dbSNP: rs121918394
rs121918394
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III
0.860 GeneticVariation UNIPROT Common and rare genotypes of human apolipoprotein E determined by specific restriction profiles of polymerase chain reaction-amplified DNA. 8287539

1994

dbSNP: rs121918394
rs121918394
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III
0.860 GeneticVariation UNIPROT Familial apolipoprotein E deficiency and type III hyperlipoproteinemia due to a premature stop codon in the apolipoprotein E gene. 1361196

1992

dbSNP: rs121918394
rs121918394
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III
0.860 GeneticVariation UNIPROT Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia. 1674745

1991

dbSNP: rs121918394
rs121918394
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III
0.860 GeneticVariation UNIPROT Identification and characterization of a new variant of apolipoprotein E (apo E-Kochi). 2101409

1991

dbSNP: rs121918394
rs121918394
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III
0.860 GeneticVariation UNIPROT Identification of human apolipoprotein E variant gene: apolipoprotein E7 (Glu244,245----Lys244,245). 2738044

1989

dbSNP: rs121918394
rs121918394
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III
0.860 GeneticVariation UNIPROT Apolipoprotein E3-Leiden contains a seven-amino acid insertion that is a tandem repeat of residues 121-127. 2556398

1989