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
C 0.810 CausalMutation CLINVAR

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
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: 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: 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: rs63749836
rs63749836
PSEN1
A 0.700 GeneticVariation 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
dbSNP: rs63750053
rs63750053
PSEN1
T 0.700 CausalMutation CLINVAR The impact of different presenilin 1 andpresenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: evidence for other phenotype-modifying factors. 10468510

1999
dbSNP: rs63750053
rs63750053
PSEN1
T 0.700 CausalMutation CLINVAR Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. 11524469

2001
dbSNP: rs63750053
rs63750053
PSEN1
T 0.700 CausalMutation CLINVAR The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism. 17197420

2007
dbSNP: rs63750053
rs63750053
PSEN1
T 0.700 CausalMutation CLINVAR Presenilin mutations in Alzheimer's disease. 9521418

1998
dbSNP: rs63750053
rs63750053
PSEN1
T 0.700 CausalMutation CLINVAR U1 small nuclear ribonucleoproteins (snRNPs) aggregate in Alzheimer's disease due to autosomal dominant genetic mutations and trisomy 21. 24773620

2014
dbSNP: rs63750082
rs63750082
PSEN1
C 0.700 CausalMutation CLINVAR Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. 11524469

2001
dbSNP: rs63750082
rs63750082
PSEN1
C 0.700 CausalMutation CLINVAR A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. 11710891

2001