Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1223904774
rs1223904774
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.060 GeneticVariation BEFREE We now report that miR-342-5p is upregulated in APP/PS1, PS1ΔE9, and PS1-M146V transgenic AD mice, and that this upregulation is mechanistically linked to elevated β-catenin, c-Myc, and interferon regulatory factor-9. 24440716

2014

dbSNP: rs1223904774
rs1223904774
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.060 GeneticVariation BEFREE A rare variant in PLD3 (phospholipase D3; Val232Met) segregated with disease status in two independent families and doubled risk for Alzheimer's disease in seven independent case-control series with a total of more than 11,000 cases and controls of European descent. 24336208

2014

dbSNP: rs1223904774
rs1223904774
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.060 GeneticVariation BEFREE To investigate the effect of early immune modulation on neuroinflammation and cognitive outcome, we treated triple transgenic Alzheimer's disease mice (harboring PS1(M146V), APP(Swe), and tau(P301L) transgenes) with the small molecule tumor necrosis factor-α inhibitors, 3,6'-dithiothalidomide and thalidomide, beginning at four months of age. 22632257

2012

dbSNP: rs1223904774
rs1223904774
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.060 GeneticVariation BEFREE A triple transgenic mouse model of AD (3xTg-AD) which harbors mutations in three human transgenes, APP(Swe), PS1(M146V) and Tau(P301L), was used in these experiments. 21237293

2011

dbSNP: rs1223904774
rs1223904774
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.060 GeneticVariation BEFREE To study the interaction between Abeta and tau and their effect on synaptic function, we derived a triple-transgenic model (3xTg-AD) harboring PS1(M146V), APP(Swe), and tau(P301L) transgenes. 12895417

2003

dbSNP: rs1223904774
rs1223904774
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.060 GeneticVariation BEFREE beta-Adrenoceptor- and forskolin-stimulated adenylyl cyclase activities were determined in primary skin fibroblasts established from patients with sporadic Alzheimer's disease (AD) and from individuals with familial APP KM670/671NL, PS1 M146V and PS1 H163Y mutations. 9223097

1997