Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750264
rs63750264
APP
0.100 GeneticVariation BEFREE The 717Val----Ile substitution in amyloid precursor protein is associated with familial Alzheimer's disease regardless of ethnic groups. 1908231

1991
dbSNP: rs63750264
rs63750264
APP
0.100 GeneticVariation BEFREE The cytoskeletal pathology of a patient with familial Alzheimer's disease (AD) associated with the probably causal amyloid precursor protein (APP) codon 717 Val----Ile mutation is described. 1584463

1992
dbSNP: rs63750264
rs63750264
APP
0.100 GeneticVariation BEFREE This mutation, which is predicted to cause the missense substitution of isoleucine for valine at codon 717 of APP, cosegregated perfectly with the FAD trait (lod score = 3.49 at theta = 0.00). 1520398

1992
dbSNP: rs63749964
rs63749964
APP
0.060 GeneticVariation BEFREE Tau pathology in a case of familial Alzheimer's disease with a valine to glycine mutation at position 717 in the amyloid precursor protein. 1465214

1992
dbSNP: rs63750264
rs63750264
APP
0.100 GeneticVariation BEFREE Absence of linkage disequilibrium at amyloid precursor protein gene locus in Japanese familial Alzheimer's disease with 717Val-->Ile mutation. 8121639

1993
dbSNP: rs63749964
rs63749964
APP
0.060 GeneticVariation BEFREE Familial Alzheimer's disease. A pedigree with a mis-sense mutation in the amyloid precursor protein gene (amyloid precursor protein 717 valine-->glycine). 8461968

1993
dbSNP: rs572842823
rs572842823
APP
0.070 GeneticVariation BEFREE The Lys595-->Asn and Met596-->Leu substitutions found in a pedigree of familial Alzheimer's disease, increased the cathepsin D-catalyzed rate of accumulation of 5.5 kDa and 10-12 kDa C286.8a-reactive fragments 5-10fold. 7523115

1994
dbSNP: rs572842823
rs572842823
APP
0.070 GeneticVariation BEFREE Only the Swedish familial Alzheimer's disease mutation (K595N/M596L) strongly increases A beta production. 7695913

1995
dbSNP: rs371425292
rs371425292
APP
0.060 GeneticVariation BEFREE Only the Swedish familial Alzheimer's disease mutation (K595N/M596L) strongly increases A beta production. 7695913

1995
dbSNP: rs63750231
rs63750231
PSEN1
0.100 GeneticVariation BEFREE We found the mutations, G384A, E280A in two FAD and H163R in one sporadic AD patient, and no N1411 or M239V mutation in PS-2 gene, and no mutation in exons 16 and 17 in amyloid precursor protein (APP) gene. 8945747

1996
dbSNP: rs63750264
rs63750264
APP
0.100 GeneticVariation BEFREE In this study, we screened for the amyloid beta precursor protein (APP) 665 (glutamic acid to aspartic acid), 670/671 (lysine to asparagine and methionine to leucine) and 717 (valine to isoleucine) mutations in 34 persons affected with familial Alzheimer's disease (AD) and 139 with sporadic AD, originating from eastern Finland, using polymerase chain reaction amplification and restriction enzyme digestion. 8867023

1996
dbSNP: rs63750264
rs63750264
APP
0.100 GeneticVariation BEFREE In dominantly inherited familial Alzheimer's disease (FAD), point mutations V6421, V642F and V642G have been discovered in APP695. 8599933

1996
dbSNP: rs371425292
rs371425292
APP
0.060 GeneticVariation BEFREE In this study, we screened for the amyloid beta precursor protein (APP) 665 (glutamic acid to aspartic acid), 670/671 (lysine to asparagine and methionine to leucine) and 717 (valine to isoleucine) mutations in 34 persons affected with familial Alzheimer's disease (AD) and 139 with sporadic AD, originating from eastern Finland, using polymerase chain reaction amplification and restriction enzyme digestion. 8867023

1996
dbSNP: rs63749964
rs63749964
APP
0.060 GeneticVariation BEFREE In dominantly inherited familial Alzheimer's disease (FAD), point mutations V6421, V642F and V642G have been discovered in APP695. 8599933

1996
dbSNP: rs63749964
rs63749964
APP
0.060 GeneticVariation BEFREE Seven at risk members of a familial Alzheimer's disease pedigree associated with the amyloid precursor protein 717 valine to glycine mutation underwent serial MR scanning and neuropsychological assessments over 3 years. 9010004

1996
dbSNP: rs63750590
rs63750590
PSEN1
0.020 GeneticVariation BEFREE We found the mutations, G384A, E280A in two FAD and H163R in one sporadic AD patient, and no N1411 or M239V mutation in PS-2 gene, and no mutation in exons 16 and 17 in amyloid precursor protein (APP) gene. 8945747

1996
dbSNP: rs63751309
rs63751309
PSEN1
0.020 GeneticVariation BEFREE Presenilin-1 (PS-1) gene of three Japanese pedigrees with early-onset familial Alzheimer's disease (FAD) disclosed two novel missense mutations resulting in Val96Phe and Ile213Thr, and one mutation resulting in His163Arg. 8733303

1996
dbSNP: rs762508225
rs762508225
APP
0.020 GeneticVariation BEFREE We found the mutations, G384A, E280A in two FAD and H163R in one sporadic AD patient, and no N1411 or M239V mutation in PS-2 gene, and no mutation in exons 16 and 17 in amyloid precursor protein (APP) gene. 8945747

1996
dbSNP: rs63750363
rs63750363
APP
0.010 GeneticVariation BEFREE In this study, we screened for the amyloid beta precursor protein (APP) 665 (glutamic acid to aspartic acid), 670/671 (lysine to asparagine and methionine to leucine) and 717 (valine to isoleucine) mutations in 34 persons affected with familial Alzheimer's disease (AD) and 139 with sporadic AD, originating from eastern Finland, using polymerase chain reaction amplification and restriction enzyme digestion. 8867023

1996
dbSNP: rs63750601
rs63750601
PSEN1
0.010 GeneticVariation BEFREE Presenilin-1 (PS-1) gene of three Japanese pedigrees with early-onset familial Alzheimer's disease (FAD) disclosed two novel missense mutations resulting in Val96Phe and Ile213Thr, and one mutation resulting in His163Arg. 8733303

1996
dbSNP: rs63751420
rs63751420
PSEN1
0.010 GeneticVariation BEFREE Fragmentation of cellular PS-1 was not affected by the missense point mutation of Ala260Val on PS-1 which was identified in a pedigree with familial Alzheimer's disease. 8806669

1996
dbSNP: rs778936527
rs778936527
PSEN2
0.010 GeneticVariation BEFREE We found the mutations, G384A, E280A in two FAD and H163R in one sporadic AD patient, and no N1411 or M239V mutation in PS-2 gene, and no mutation in exons 16 and 17 in amyloid precursor protein (APP) gene. 8945747

1996
dbSNP: rs63750264
rs63750264
APP
0.100 GeneticVariation BEFREE In familial Alzheimer's disease (FAD), three missense mutations, V642I, V642F and V642G, that co-segregate with the disease phenotype have been discovered in the 695 amino acid form of the amyloid precursor protein APP. 9305632

1997
dbSNP: rs63750526
rs63750526
PSEN1
0.100 GeneticVariation BEFREE We now document that, in the brains of transgenic mice, the absolute amounts of accumulated N- and C-terminal derivatives generated from the FAD-linked PS1 variants in which Glu replaces Ala at codon 246 (A246E) or Leu replaces Met at codon 146 (M146L) accumulate to a significantly higher degree (approximately 40-50%) than the fragments derived from wild-type PS1. 9212102

1997
dbSNP: rs63750526
rs63750526
PSEN1
0.100 GeneticVariation BEFREE In this report, we demonstrate that transgenic animals that coexpress a FAD-linked human PS1 variant (A246E) and a chimeric mouse/human APP harboring mutations linked to Swedish FAD kindreds (APP swe) develop numerous amyloid deposits much earlier than age-matched mice expressing APP swe and wild-type Hu PS1 or APP swe alone. 9354339

1997