Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751399
rs63751399
C 0.810 CausalMutation CLINVAR

dbSNP: rs1566630811
rs1566630811
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566630884
rs1566630884
A 0.700 GeneticVariation CLINVAR

dbSNP: rs63749824
rs63749824
T 0.700 CausalMutation CLINVAR

dbSNP: rs63749836
rs63749836
A 0.700 GeneticVariation CLINVAR

dbSNP: rs63750590
rs63750590
G 0.700 CausalMutation CLINVAR

dbSNP: rs63751223
rs63751223
C 0.700 GeneticVariation CLINVAR

dbSNP: rs63750231
rs63750231
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: rs63750526
rs63750526
A 0.700 CausalMutation CLINVAR Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. 7596406

1995

dbSNP: rs661
rs661
A 0.700 CausalMutation CLINVAR Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. 7596406

1995

dbSNP: rs661
rs661
A 0.700 CausalMutation CLINVAR Mutations of the presenilin I gene in families with early-onset Alzheimer's disease. 8634712

1995

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

1996

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

1997

dbSNP: rs661
rs661
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: rs63751278
rs63751278
G 0.700 CausalMutation CLINVAR Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation. 9225696

1997

dbSNP: rs63750450
rs63750450
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: rs63750053
rs63750053
T 0.700 CausalMutation CLINVAR Presenilin mutations in Alzheimer's disease. 9521418

1998

dbSNP: rs63750526
rs63750526
A 0.700 CausalMutation CLINVAR Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing. 9680315

1997

dbSNP: rs661
rs661
A 0.700 CausalMutation CLINVAR Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing. 9680315

1997

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

2001

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

2001

dbSNP: rs63751287
rs63751287
G 0.710 CausalMutation CLINVAR A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies. 11684347

2001

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

2001