Gene: PSEN1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518919
rs1057518919
PSEN1
0.010 GeneticVariation BEFREE Genetic analysis showed that the AD patients in the family harbored a T to G missense mutation at the position 314 in exon 4 of the PS1 gene, resulting in a change of F105C in amino acid sequence. 24737487

2014
dbSNP: rs1312532981
rs1312532981
PSEN1
0.010 GeneticVariation BEFREE Two rare variants have been nominally associated with AD risk or protection (TREM2 p.R47H, MAF approximately 0.002, OR approximately 4 and APP p.A673T, MAF approximately 0.0005, OR approximately 0.2). 28002825

2016
dbSNP: rs1362575880
rs1362575880
PSEN1
0.010 GeneticVariation BEFREE Our findings suggest that both I249L and P433S are pathogenic for early onset of AD by increasing Aβ42 production and Aβ42/Aβ40 ratios. 31235249

2019
dbSNP: rs1446915570
rs1446915570
PSEN1
0.010 GeneticVariation BEFREE Neuropathologic and molecular studies in brains of carriers of the PSEN1 p.A396T mutation or other PSEN1 or PSEN2 mutations associated with the coexistence of DLBD and AD are needed to clarify whether tau and α-synuclein proteinopathies occur independently or whether a relationship exists between α-synuclein and tau that might explain the mechanisms of coaggregation. 31165862

2019
dbSNP: rs1566630910
rs1566630910
PSEN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1566638673
rs1566638673
PSEN1
CTTA 0.700 GeneticVariation CLINVAR

dbSNP: rs1566656702
rs1566656702
PSEN1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1566657804
rs1566657804
PSEN1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs165932
rs165932
PSEN1
0.010 GeneticVariation BEFREE Numerous studies have tested for associations between an intronic polymorphism (rs165932) of presenilin-1 (PS-1) gene and the risk of Alzheimer's disease (AD), but results have been conflicting. 17719017

2007
dbSNP: rs17125721
rs17125721
PSEN1
0.090 GeneticVariation BEFREE The E318G substitution in PSEN1 gene is not connected with Alzheimer's disease in a large Polish cohort. 15003276

2004
dbSNP: rs17125721
rs17125721
PSEN1
0.090 GeneticVariation BEFREE These findings suggest that the Glu318Gly mutation may work as a genetic risk factor for Alzheimer's disease. 11755019

2002
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: rs17125721
rs17125721
PSEN1
0.090 GeneticVariation BEFREE The E318G mutation has not an assessed pathogenic function, but some data have highlighted a role as a risk factor for AD in a predisposed familiar background. 18525293

2008
dbSNP: rs17125721
rs17125721
PSEN1
0.090 GeneticVariation BEFREE The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease. 9851443

1998
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: rs17125721
rs17125721
PSEN1
0.090 GeneticVariation BEFREE The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers. 23990795

2013
dbSNP: rs17125721
rs17125721
PSEN1
0.090 GeneticVariation BEFREE Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer's disease? 10643802

2000
dbSNP: rs17125721
rs17125721
PSEN1
0.090 GeneticVariation BEFREE Our follow-up of this family may help elucidate E318G's role in AD and globally points to a null effect of this variant. 30381075

2019
dbSNP: rs1800839
rs1800839
PSEN1
0.010 GeneticVariation BEFREE Meta-analysis of PSEN1 gene suggests that the rs1800839 polymorphism has potential influence on AD among Caucasians. 28821390

2017
dbSNP: rs200576075
rs200576075
PSEN1
0.010 GeneticVariation BEFREE Presenilin 2 mutation R71W in an Italian early-onset sporadic Alzheimer's disease case. 21544564

2011
dbSNP: rs3025786
rs3025786
PSEN1
0.010 GeneticVariation BEFREE The present work examined the possible modulation of the risk of AD by a PSEN1 polymorphism (dbSNP rs3025786) located in intron 7, which we found during a denaturing gradient gel electrophoresis mutation screening of the gene, and which was previously reported as 'suspected' in the public databases. 18957849

2008
dbSNP: rs41345849
rs41345849
PSEN1
0.010 GeneticVariation BEFREE Two novel presenilin 1 (PS1) mutations, V97L and A136G, were recently found to be involved in the early-onset of Alzheimer's disease in two Chinese families. 18706205

2008
dbSNP: rs63749805
rs63749805
PSEN1
0.020 GeneticVariation BEFREE Subsequent investigation identified a PSEN1 P117L mutation and the diagnosis of autosomal dominant AD was made. 30567237

2018
dbSNP: rs63749805
rs63749805
PSEN1
0.020 GeneticVariation BEFREE The presenilin-1 (PS1) gene mutation (Pro117Leu), recently identified in a Polish family is characterized by the earliest reported onset (from 24-31 years) of Alzheimer disease (AD) and a very short duration of disease (4-6 years). 9737546

1998
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