Gene: PSEN1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751287
rs63751287
PSEN1
G 0.800 CausalMutation CLINVAR PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder. 29316780

2018
dbSNP: rs63750053
rs63750053
PSEN1
T 0.800 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 0.800 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 0.800 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 0.800 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 0.800 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 0.800 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 0.800 CausalMutation CLINVAR APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. 28350801

2017
dbSNP: rs661
rs661
PSEN1
A 0.800 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 0.800 CausalMutation CLINVAR Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction. 27206484

2016
dbSNP: rs63750053
rs63750053
PSEN1
T 0.800 CausalMutation CLINVAR Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency. 26923592

2016
dbSNP: rs63750082
rs63750082
PSEN1
C 0.800 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 0.800 CausalMutation CLINVAR Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series. 27777022

2016
dbSNP: rs63750900
rs63750900
PSEN1
A 0.800 CausalMutation CLINVAR Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series. 27777022

2016
dbSNP: rs63751287
rs63751287
PSEN1
G 0.800 CausalMutation CLINVAR Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD. 27014058

2016
dbSNP: rs661
rs661
PSEN1
A 0.800 CausalMutation CLINVAR Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain. 27100200

2016
dbSNP: rs661
rs661
PSEN1
A 0.800 CausalMutation CLINVAR Familial Alzheimer's Disease Mutations in Presenilin Generate Amyloidogenic Aβ Peptide Seeds. 27100199

2016
dbSNP: rs63750231
rs63750231
PSEN1
C 0.800 CausalMutation CLINVAR Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation. 25471389

2015
dbSNP: rs63750450
rs63750450
PSEN1
G 0.800 CausalMutation CLINVAR APP metabolism regulates tau proteostasis in human cerebral cortex neurons. 25921538

2015
dbSNP: rs63750526
rs63750526
PSEN1
A 0.800 CausalMutation CLINVAR Mutation analysis of patients with neurodegenerative disorders using NeuroX array. 25174650

2015
dbSNP: rs661
rs661
PSEN1
A 0.800 CausalMutation CLINVAR Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease. 25741723

2015
dbSNP: rs63750053
rs63750053
PSEN1
T 0.800 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 0.800 CausalMutation CLINVAR Disease-related mutations among Caribbean Hispanics with familial dementia. 25333068

2014
dbSNP: rs63750231
rs63750231
PSEN1
C 0.800 CausalMutation CLINVAR The E280A presenilin mutation reduces voltage-gated sodium channel levels in neuronal cells. 24217025

2014
dbSNP: rs63750526
rs63750526
PSEN1
A 0.800 CausalMutation CLINVAR Lysosomal alkalization and dysfunction in human fibroblasts with the Alzheimer's disease-linked presenilin 1 A246E mutation can be reversed with cAMP. 24418614

2014