Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750066
rs63750066
APP
0.010 GeneticVariation BEFREE Familial Alzheimer disease associated with A713T mutation in APP. 15488330

2004
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: rs63749805
rs63749805
PSEN1
0.050 GeneticVariation BEFREE A neuron-specific enolase (NSE) promoter was used to drive neuronal overexpression of either wild-type human PS1 or the FAD mutant P117L in transgenic mice, and the animals were studied under standard-housing conditions or after environmental enrichment. 15246822

2004
dbSNP: rs63750264
rs63750264
APP
0.100 GeneticVariation BEFREE A novel factor, termed Humanin (HN), antagonizes against neurotoxicity by various types of familial Alzheimer's disease (AD) genes [V642I and K595N/M596L (NL) mutants of amyloid precursor protein (APP), M146L-presenilin (PS) 1, and N141I-PS2] and by Abeta1-43 with clear action specificity ineffective on neurotoxicity by polyglutamine repeat Q79 or superoxide dismutase 1 mutants. 11717357

2001
dbSNP: rs371425292
rs371425292
APP
0.060 GeneticVariation BEFREE A novel factor, termed Humanin (HN), antagonizes against neurotoxicity by various types of familial Alzheimer's disease (AD) genes [V642I and K595N/M596L (NL) mutants of amyloid precursor protein (APP), M146L-presenilin (PS) 1, and N141I-PS2] and by Abeta1-43 with clear action specificity ineffective on neurotoxicity by polyglutamine repeat Q79 or superoxide dismutase 1 mutants. 11717357

2001
dbSNP: rs572842823
rs572842823
APP
0.070 GeneticVariation BEFREE A novel factor, termed Humanin (HN), antagonizes against neurotoxicity by various types of familial Alzheimer's disease (AD) genes [V642I and K595N/M596L (NL) mutants of amyloid precursor protein (APP), M146L-presenilin (PS) 1, and N141I-PS2] and by Abeta1-43 with clear action specificity ineffective on neurotoxicity by polyglutamine repeat Q79 or superoxide dismutase 1 mutants. 11717357

2001
dbSNP: rs1231783932
rs1231783932
APP
0.050 GeneticVariation BEFREE A novel factor, termed Humanin (HN), antagonizes against neurotoxicity by various types of familial Alzheimer's disease (AD) genes [V642I and K595N/M596L (NL) mutants of amyloid precursor protein (APP), M146L-presenilin (PS) 1, and N141I-PS2] and by Abeta1-43 with clear action specificity ineffective on neurotoxicity by polyglutamine repeat Q79 or superoxide dismutase 1 mutants. 11717357

2001
dbSNP: rs63750634
rs63750634
PSEN1
0.010 GeneticVariation BEFREE A novel mutation (L250V) in the presenilin 1 gene in a Japanese familial Alzheimer's disease with myoclonus and generalized convulsion. 12686406

2003
dbSNP: rs63750231
rs63750231
PSEN1
0.100 GeneticVariation BEFREE A sample was taken of 49 subjects with FAD and with the mutation E280A in the presenilin-1 gene on chromosome 14; the sample was divided into two subgroups: 27 individuals with age of onset of the disease between 36 and 46 years (early onset) and 22 individuals whose disease began between 47 and 62 years (late onset). 15000414

2003
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: rs63751037
rs63751037
PSEN1
0.020 GeneticVariation BEFREE Clinicopathological features of familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene. Pedigree but not mutation specific age at onset provides evidence for a further genetic factor. 9126060

1997
dbSNP: rs779569800
rs779569800
APOE
0.010 GeneticVariation BEFREE Clinicopathological features of familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene. Pedigree but not mutation specific age at onset provides evidence for a further genetic factor. 9126060

1997
dbSNP: rs63750526
rs63750526
PSEN1
0.100 GeneticVariation BEFREE Co-expression of a human presenilin-1 (PS1) transgene containing the A246E FAD mutation accelerates deposition and also favors-at least initially-accumulation of A beta(42) so that the A beta(2):A beta(40) ratio of peptides from 7- to 12-month-old APP695SWE x PS1A246E animals is significantly elevated above that observed throughout the lifetime of APP695SWE mice. 15312963

2004
dbSNP: rs781049584
rs781049584
APP
0.040 GeneticVariation BEFREE Co-expression of a human presenilin-1 (PS1) transgene containing the A246E FAD mutation accelerates deposition and also favors-at least initially-accumulation of A beta(42) so that the A beta(2):A beta(40) ratio of peptides from 7- to 12-month-old APP695SWE x PS1A246E animals is significantly elevated above that observed throughout the lifetime of APP695SWE mice. 15312963

2004
dbSNP: rs28936379
rs28936379
PSEN2
0.010 GeneticVariation BEFREE Cognitive deficits in familial Alzheimer's disease associated with M239V mutation of presenilin 2. 16902278

2006
dbSNP: rs63749880
rs63749880
PSEN1
0.010 GeneticVariation BEFREE Compared with the previously reported cases of same Gly209 mutation (G209V), the clinical features of the G209R-FAD cases appear to be less critical than those of G209V-FAD cases, although the Gly to Arg mutation is considered to be less conservative than the Gly to Val mutation. 10447269

1999
dbSNP: rs63750053
rs63750053
PSEN1
0.010 GeneticVariation BEFREE Compared with the previously reported cases of same Gly209 mutation (G209V), the clinical features of the G209R-FAD cases appear to be less critical than those of G209V-FAD cases, although the Gly to Arg mutation is considered to be less conservative than the Gly to Val mutation. 10447269

1999
dbSNP: rs1302192564
rs1302192564
APP
0.010 GeneticVariation BEFREE Cosegregegation analysis and the structural as well as the presumed functional role of the mutated and highly conserved residue suggest FAD causing characteristics of the novel PSEN1 mutation Ala275Val. 24582897

2014
dbSNP: rs1451944248
rs1451944248
APP
0.010 GeneticVariation BEFREE Cosegregegation analysis and the structural as well as the presumed functional role of the mutated and highly conserved residue suggest FAD causing characteristics of the novel PSEN1 mutation Ala275Val. 24582897

2014
dbSNP: rs63749964
rs63749964
APP
0.060 GeneticVariation BEFREE Critical role of methionine-722 in the stimulation of human brain G-proteins and neurotoxicity induced by London familial Alzheimer's disease (FAD) mutated V717G-APP(714-723). 17101228

2007
dbSNP: rs63750001
rs63750001
PSEN1
0.020 GeneticVariation BEFREE Derivation of induced pluripotent stem cells from a familial Alzheimer's disease patient carrying the L282F mutation in presenilin 1. 27789396

2016
dbSNP: rs1490931437
rs1490931437
TP53
0.010 GeneticVariation BEFREE Derivation of induced pluripotent stem cells from a familial Alzheimer's disease patient carrying the L282F mutation in presenilin 1. 27789396

2016
dbSNP: rs63750264
rs63750264
APP
0.100 GeneticVariation BEFREE Dermal fibroblasts were obtained from a 55 year old male Сaucasian familial Alzheimer's disease (AD) patient carrying heterozygous V717I mutation in the APP gene. 30851551

2019
dbSNP: rs63749805
rs63749805
PSEN1
0.050 GeneticVariation BEFREE Difficult case of a rare form of familial Alzheimer's disease with PSEN1 P117L mutation. 30567237

2018
dbSNP: rs63750730
rs63750730
PSEN1
0.010 GeneticVariation BEFREE Early psychiatrics symptoms in familial Alzheimer's disease with presenilin 1 mutation (I83T). 26695639

2016