Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750231
rs63750231
C 0.700 CausalMutation CLINVAR Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation. 25471389

2015

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

2015

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

2015

dbSNP: rs661
rs661
A 0.700 CausalMutation CLINVAR Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease. 25741723

2015

dbSNP: rs63750053
rs63750053
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
C 0.700 CausalMutation CLINVAR Disease-related mutations among Caribbean Hispanics with familial dementia. 25333068

2014

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

2014

dbSNP: rs63750526
rs63750526
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

dbSNP: rs661
rs661
A 0.700 CausalMutation CLINVAR Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease. 24880964

2014

dbSNP: rs661
rs661
A 0.700 CausalMutation CLINVAR Familial Alzheimer's disease coding mutations reduce Presenilin-1 expression in a novel genomic locus reporter model. 24011544

2014

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

2013

dbSNP: rs661
rs661
A 0.700 CausalMutation CLINVAR Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production. 23843529

2013

dbSNP: rs63750082
rs63750082
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: rs63750231
rs63750231
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
C 0.700 CausalMutation CLINVAR Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of γ-secretase. 22461631

2012

dbSNP: rs661
rs661
A 0.700 CausalMutation CLINVAR MOCA is an integrator of the neuronal death signals that are activated by familial Alzheimer's disease-related mutants of amyloid β precursor protein and presenilins. 22115042

2012

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

2011

dbSNP: rs661
rs661
A 0.700 CausalMutation CLINVAR Presenilin/γ-secretase regulates neurexin processing at synapses. 21559374

2011

dbSNP: rs1566650594
rs1566650594
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: rs63750083
rs63750083
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
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: rs661
rs661
A 0.700 CausalMutation CLINVAR Presenilin 1 mutants impair the self-renewal and differentiation of adult murine subventricular zone-neuronal progenitors via cell-autonomous mechanisms involving notch signaling. 20484632

2010

dbSNP: rs63750082
rs63750082
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: rs63751278
rs63751278
G 0.700 CausalMutation CLINVAR Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1. 18580586

2008

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

2007