Gene: PSEN1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750082
rs63750082
PSEN1
C 0.700 CausalMutation CLINVAR Disease-related mutations among Caribbean Hispanics with familial dementia. 25333068

2014
dbSNP: rs63750082
rs63750082
PSEN1
C 0.700 CausalMutation CLINVAR Prominent neuroleptic sensitivity in a case of early-onset Alzheimer disease due to presenilin-1 G206A mutation. 18797263

2008
dbSNP: rs63750082
rs63750082
PSEN1
C 0.700 CausalMutation CLINVAR Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families. 22312439

2012
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: 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: rs63750082
rs63750082
PSEN1
C 0.700 CausalMutation CLINVAR Frequency and clinicopathological characteristics of presenilin 1 Gly206Ala mutation in Puerto Rican Hispanics with dementia. 23114514

2013
dbSNP: rs63750083
rs63750083
PSEN1
A 0.700 CausalMutation CLINVAR Alzheimer disease-related presenilin-1 variants exert distinct effects on monoamine oxidase-A activity in vitro. 21373759

2011
dbSNP: rs63750083
rs63750083
PSEN1
A 0.700 CausalMutation CLINVAR Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families. 16628450

2006
dbSNP: rs63750083
rs63750083
PSEN1
A 0.700 CausalMutation CLINVAR The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families. 16897084

2006
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: rs63750083
rs63750083
PSEN1
A 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: rs63750083
rs63750083
PSEN1
A 0.700 CausalMutation CLINVAR Distinct cerebrospinal fluid amyloid beta peptide signatures in sporadic and PSEN1 A431E-associated familial Alzheimer's disease. 20145736

2010
dbSNP: rs63750231
rs63750231
PSEN1
C 0.700 CausalMutation CLINVAR The E280A presenilin mutation reduces voltage-gated sodium channel levels in neuronal cells. 24217025

2014
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: rs63750231
rs63750231
PSEN1
C 0.700 CausalMutation CLINVAR Phenotypic profile of early-onset familial Alzheimer's disease caused by presenilin-1 E280A mutation. 22766738

2012
dbSNP: rs63750231
rs63750231
PSEN1
C 0.700 CausalMutation CLINVAR Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of γ-secretase. 22461631

2012
dbSNP: rs63750231
rs63750231
PSEN1
C 0.700 CausalMutation CLINVAR Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation. 25471389

2015
dbSNP: rs63750231
rs63750231
PSEN1
C 0.700 CausalMutation CLINVAR The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. 7550356

1995
dbSNP: rs63750450
rs63750450
PSEN1
G 0.700 CausalMutation CLINVAR Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. 9384602

1998
dbSNP: rs63750450
rs63750450
PSEN1
G 0.700 CausalMutation CLINVAR APP metabolism regulates tau proteostasis in human cerebral cortex neurons. 25921538

2015
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: 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: rs63750526
rs63750526
PSEN1
A 0.700 CausalMutation CLINVAR Mutation analysis of patients with neurodegenerative disorders using NeuroX array. 25174650

2015
dbSNP: rs63750526
rs63750526
PSEN1
A 0.700 CausalMutation CLINVAR Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. 7596406

1995
dbSNP: rs63750526
rs63750526
PSEN1
A 0.700 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