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
C 0.810 CausalMutation CLINVAR

dbSNP: rs1566630811
rs1566630811
PSEN1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566630884
rs1566630884
PSEN1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs63749824
rs63749824
PSEN1
T 0.700 CausalMutation CLINVAR

dbSNP: rs63749836
rs63749836
PSEN1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs63750590
rs63750590
PSEN1
G 0.700 CausalMutation CLINVAR

dbSNP: rs63751223
rs63751223
PSEN1
C 0.700 GeneticVariation CLINVAR

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

2018
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
dbSNP: rs63750900
rs63750900
PSEN1
A 0.700 CausalMutation CLINVAR A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease. 8910898

1996
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: 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: rs63750900
rs63750900
PSEN1
A 0.700 CausalMutation CLINVAR A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes. 9189043

1997
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: rs661
rs661
PSEN1
A 0.700 CausalMutation CLINVAR Alzheimer's disease-associated presenilins 1 and 2: accelerated amyloid fibril formation of mutant 410 Cys-->Tyr and 141 Asn-->Ile peptides. 9196071

1997
dbSNP: rs661
rs661
PSEN1
A 0.700 CausalMutation CLINVAR Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees. 17553989

2007
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: 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: 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: 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: rs63750900
rs63750900
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: rs661
rs661
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: rs63750450
rs63750450
PSEN1
G 0.700 CausalMutation CLINVAR APP metabolism regulates tau proteostasis in human cerebral cortex neurons. 25921538

2015
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: 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