Gene: PSEN1 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751163
rs63751163
PSEN1
0.020 GeneticVariation BEFREE Alzheimer's disease presenilin-1 exon 9 deletion and L250S mutations sensitize SH-SY5Y neuroblastoma cells to hyperosmotic stress-induced apoptosis. 10658639

2000
dbSNP: rs63750306
rs63750306
PSEN1
0.100 GeneticVariation BEFREE M146L mutant PS-1 may predispose to both Pick's disease and AD by affecting multiple intracellular pathways involving tau phosphorylation and amyloid metabolism. 15622541

2005
dbSNP: rs63750231
rs63750231
PSEN1
0.100 GeneticVariation BEFREE E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles. 9298817

1997
dbSNP: rs17125721
rs17125721
PSEN1
0.090 GeneticVariation BEFREE A meta-analysis was performed to assess PSEN1 gene polymorphisms (rs1800839 and rs17125721) in Alzheimer's disease (AD) risk. 28821390

2017
dbSNP: rs63750231
rs63750231
PSEN1
0.100 GeneticVariation BEFREE A Mutation in DAOA Modifies the Age of Onset in PSEN1 E280A Alzheimer's Disease. 26949549

2016
dbSNP: rs63750815
rs63750815
PSEN1
0.010 GeneticVariation BEFREE A novel mutation (V89L) in the presenilin 1 (PSEN1) gene is described in a family with pathologically confirmed Alzheimer's disease. 11796781

2002
dbSNP: rs779296437
rs779296437
PSEN1
0.010 GeneticVariation BEFREE A novel presenilin 1 mutation, I202F occurring at a previously predicted pathogenic site causing autosomal dominant Alzheimer's disease. 21144619

2011
dbSNP: rs17125721
rs17125721
PSEN1
0.090 GeneticVariation BEFREE Analyses in additional case-control datasets will be required to understand fully the effect of E318G on Alzheimer's disease status. 27357204

2016
dbSNP: rs63750577
rs63750577
PSEN1
0.020 GeneticVariation BEFREE Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype. 17502474

2007
dbSNP: rs63750004
rs63750004
PSEN1
0.030 GeneticVariation BEFREE Both families segregate a different missense mutation in PSEN1 located in different parts of the protein: I143T in family AD/A and G384A in family AD/B. 10448055

1999
dbSNP: rs63750646
rs63750646
PSEN1
0.020 GeneticVariation BEFREE Both families segregate a different missense mutation in PSEN1 located in different parts of the protein: I143T in family AD/A and G384A in family AD/B. 10448055

1999
dbSNP: rs63750231
rs63750231
PSEN1
0.100 GeneticVariation BEFREE Brain imaging and fluid biomarker analysis in young adults at genetic risk for autosomal dominant Alzheimer's disease in the presenilin 1 E280A kindred: a case-control study. 23137948

2012
dbSNP: rs765670175
rs765670175
PSEN1
0.060 GeneticVariation BEFREE BrdU labeling was decreased in cells expressing presenilin-1 (PS1), presenilin-2 (PS2), an Alzheimer's disease-associated missense mutation PS2(N141I), and the carboxyl-terminally deleted PS2 construct PS2(166aa), compared with mock and neurofilament-light (NF-L) transfected cells. 10393846

1999
dbSNP: rs63750083
rs63750083
PSEN1
0.030 GeneticVariation BEFREE Clinical and biomarker investigation of a patient with a novel presenilin-1 mutation (A431V) in the mild cognitive impairment stage of Alzheimer's disease. 12399144

2002
dbSNP: rs63750231
rs63750231
PSEN1
0.100 GeneticVariation BEFREE Cross-sectional measures of 18F-florbetapir positron emission tomography, 18F-fludeoxyglucose positron emission tomography, structural magnetic resonance imaging, cerebrospinal fluid (CSF), and plasma biomarkers of AD were assessed from 54 PSEN1 E280A kindred members (age range, 20-59 years). 25580592

2015
dbSNP: rs63750231
rs63750231
PSEN1
0.100 GeneticVariation BEFREE Deposition of hyperphosphorylated tau in cerebellum of PS1 E280A Alzheimer's disease. 21159009

2011
dbSNP: rs63750231
rs63750231
PSEN1
0.100 GeneticVariation BEFREE Diagnostic accuracy of CERAD total score in a Colombian cohort with mild cognitive impairment and Alzheimer's disease affected by E280A mutation on presenilin-1 gene. 26478578

2016
dbSNP: rs63750231
rs63750231
PSEN1
0.100 GeneticVariation BEFREE DNA was available from 114 carriers of the E280A PS1 mutation, including 52 subjects with AD. 12891668

2003
dbSNP: rs63750231
rs63750231
PSEN1
0.100 GeneticVariation BEFREE ERP generator anomalies in presymptomatic carriers of the Alzheimer's disease E280A PS-1 mutation. 19650138

2010
dbSNP: rs63750231
rs63750231
PSEN1
0.100 GeneticVariation BEFREE Florbetapir PET analysis of amyloid-β deposition in the presenilin 1 E280A autosomal dominant Alzheimer's disease kindred: a cross-sectional study. 23137949

2012
dbSNP: rs63751106
rs63751106
PSEN1
0.010 GeneticVariation BEFREE Furthermore, we show that preclinical carriers of the PSEN1 M139T mutation may overexpress Aβ1-42 suggesting that this particular mutation may cause AD by stimulating γ-secretase-mediated cleavage at amino acid 42 in the Aβ sequence. 22307680

2012
dbSNP: rs63750001
rs63750001
PSEN1
0.010 GeneticVariation BEFREE Generation and deposition of Aβ43 by the virtually inactive presenilin-1 L435F mutant contradicts the presenilin loss-of-function hypothesis of Alzheimer's disease. 26988102

2016
dbSNP: rs866914724
rs866914724
PSEN1
0.010 GeneticVariation BEFREE Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a L150P mutation in PSEN-1. 27345792

2016
dbSNP: rs63749824
rs63749824
PSEN1
0.030 GeneticVariation BEFREE Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying an A79V mutation in PSEN1. 27345973

2016
dbSNP: rs63750391
rs63750391
PSEN1
0.020 GeneticVariation BEFREE Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a M146I mutation in PSEN1. 27345998

2016