Gene: PSEN1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751399
rs63751399
PSEN1
0.810 GeneticVariation BEFREE Interestingly, two presenilin 1 (PS1) mutations (Leu113Pro and insArg352) recently have been associated with familial FTD albeit without neuropathological confirmation. 15122701

2004
dbSNP: rs63751399
rs63751399
PSEN1
0.810 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs63751287
rs63751287
PSEN1
0.710 GeneticVariation BEFREE The authors describe a PS-1 (M233L) mutation with the features of frontotemporal dementia (FTD) and review the literature. 16948293

2006
dbSNP: rs1566630811
rs1566630811
PSEN1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566630884
rs1566630884
PSEN1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs63749836
rs63749836
PSEN1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs63751223
rs63751223
PSEN1
C 0.700 GeneticVariation CLINVAR

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: 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: 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: 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: 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: rs63751399
rs63751399
PSEN1
C 0.810 CausalMutation CLINVAR

dbSNP: rs63751287
rs63751287
PSEN1
G 0.710 CausalMutation CLINVAR A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies. 11684347

2001
dbSNP: rs63751287
rs63751287
PSEN1
G 0.710 CausalMutation CLINVAR PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder. 29316780

2018
dbSNP: rs63751287
rs63751287
PSEN1
G 0.710 CausalMutation CLINVAR Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD. 27014058

2016
dbSNP: rs1566650594
rs1566650594
PSEN1
T 0.700 CausalMutation CLINVAR Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes. 20634584

2010
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: 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: rs63749824
rs63749824
PSEN1
T 0.700 CausalMutation CLINVAR

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 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 A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease. Mutation in brief no. 254. Online. 10447269

1999
dbSNP: rs63750053
rs63750053
PSEN1
T 0.700 CausalMutation CLINVAR Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency. 26923592

2016