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 We found genetic etiology in 6 patients: 2 mutations in the PSEN1 gene (p.Pro264Ser and p.Phe105Cys) in the EOAD patients, C9orf72 expansion and MAPT (c.1920+16C>T), mutation in the FTD group of patients as well as MAPT (c.1920+16C>T) mutation and likely pathogenic mutation in the TYROBP mutation (p.Asp32Asn) in patients with unspecified diagnosis. 29930232

2018
dbSNP: rs775543665
rs775543665
PSEN1
0.010 GeneticVariation BEFREE We found genetic etiology in 6 patients: 2 mutations in the PSEN1 gene (p.Pro264Ser and p.Phe105Cys) in the EOAD patients, C9orf72 expansion and MAPT (c.1920+16C>T), mutation in the FTD group of patients as well as MAPT (c.1920+16C>T) mutation and likely pathogenic mutation in the TYROBP mutation (p.Asp32Asn) in patients with unspecified diagnosis. 29930232

2018
dbSNP: rs63750487
rs63750487
PSEN1
0.010 GeneticVariation BEFREE There are mutations, such as L226F, which may not present clear clinical symptoms for the definitive diagnosis between frontotemporal dementia and AD. 27785004

2016
dbSNP: rs63750306
rs63750306
PSEN1
0.010 GeneticVariation BEFREE The PS-1 M146V mutation was found in the 50-year-old subject (the proband) with family history of early-onset FTD. 23489366

2013
dbSNP: rs63750418
rs63750418
PSEN1
0.010 GeneticVariation BEFREE Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant senile dementia (TPSD; n = 5), Pick disease (n = 4), familial AD (FAD; n = 2; PSEN1 p.G206A and p.S170P), and frontotemporal dementia with parkinsonism linked to chromosome-17 (FTDP-17; n = 2; MAPT p.P301L and IVS10 + 16). 23885714

2013
dbSNP: rs63751068
rs63751068
PSEN1
0.010 GeneticVariation BEFREE Further clinical-genetic investigation showed a positive family history of FTD-like dementia and suggested that Gly183Val is associated with a phenotypically heterogeneous neurodegenerative disorder. 15122701

2004
dbSNP: rs1566650594
rs1566650594
PSEN1
T 0.700 CausalMutation CLINVAR APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. 28350801

2017
dbSNP: rs63750053
rs63750053
PSEN1
T 0.700 CausalMutation CLINVAR Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase. 27930341

2017
dbSNP: rs63750082
rs63750082
PSEN1
C 0.700 CausalMutation CLINVAR Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase. 27930341

2017
dbSNP: rs63750083
rs63750083
PSEN1
A 0.700 CausalMutation CLINVAR Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase. 27930341

2017
dbSNP: rs63750231
rs63750231
PSEN1
C 0.700 CausalMutation CLINVAR Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase. 27930341

2017
dbSNP: rs63750450
rs63750450
PSEN1
G 0.700 CausalMutation CLINVAR APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. 28350801

2017
dbSNP: rs63750900
rs63750900
PSEN1
A 0.700 CausalMutation CLINVAR Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase. 27930341

2017
dbSNP: rs63750900
rs63750900
PSEN1
A 0.700 CausalMutation CLINVAR APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. 28350801

2017
dbSNP: rs63751278
rs63751278
PSEN1
G 0.700 CausalMutation CLINVAR Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease. 27793474

2017
dbSNP: rs661
rs661
PSEN1
A 0.700 CausalMutation CLINVAR Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase. 27930341

2017
dbSNP: rs63750053
rs63750053
PSEN1
T 0.700 CausalMutation CLINVAR Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction. 27206484

2016
dbSNP: rs63750053
rs63750053
PSEN1
T 0.700 CausalMutation CLINVAR Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency. 26923592

2016
dbSNP: rs63750082
rs63750082
PSEN1
C 0.700 CausalMutation CLINVAR The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida. 27073747

2016
dbSNP: rs63750450
rs63750450
PSEN1
G 0.700 CausalMutation CLINVAR Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series. 27777022

2016
dbSNP: rs63750900
rs63750900
PSEN1
A 0.700 CausalMutation CLINVAR Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series. 27777022

2016
dbSNP: rs661
rs661
PSEN1
A 0.700 CausalMutation CLINVAR Familial Alzheimer's Disease Mutations in Presenilin Generate Amyloidogenic Aβ Peptide Seeds. 27100199

2016
dbSNP: rs661
rs661
PSEN1
A 0.700 CausalMutation CLINVAR Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain. 27100200

2016
dbSNP: rs1566650594
rs1566650594
PSEN1
T 0.700 CausalMutation CLINVAR De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease. 26194182

2015
dbSNP: rs63750231
rs63750231
PSEN1
C 0.700 CausalMutation CLINVAR Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation. 25471389

2015