Gene: APP ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750066
rs63750066
APP
0.020 GeneticVariation BEFREE We describe a case of dementia clinically compatible with frontotemporal dementia in an APP Ala713Thr mutation carrier in which both [18F]Florbetapir PET uptake and Aβ1-42 cerebrospinal fluid levels were normal. 28304299

2017
dbSNP: rs63751039
rs63751039
APP
0.020 GeneticVariation BEFREE The Arctic APP mutation (E693G) within the amyloid β (Aβ) domain of amyloid precursor protein (APP) leads to dementia with clinical features similar to Alzheimer's disease (AD), which is believed to be mediated via increased formation of protofibrils. 21880397

2012
dbSNP: rs63751039
rs63751039
APP
0.020 GeneticVariation BEFREE The Arctic APP mutation (E693G) leads to dementia with clinical features similar to Alzheimer disease (AD), but little is known about the pathogenic mechanism of this mutation. 19329229

2011
dbSNP: rs63750066
rs63750066
APP
0.020 GeneticVariation BEFREE Three members of an Italian family with autosomal dominant dementia and multiple strokes had the A713T mutation of the APP gene. 15365148

2004
dbSNP: rs193922916
rs193922916
APP
0.010 GeneticVariation BEFREE We found a novel APP mutation (A673V) in the homozygous state in a patient with early-onset AD-type dementia and in his younger sister showing initial signs of cognitive decline. 22727994

2012
dbSNP: rs529782627
rs529782627
APP
0.010 GeneticVariation BEFREE Here, we describe a novel missense mutation in the amyloid precursor protein (APP) causing a lysine-to-asparagine substitution at position 687 (APP770; herein, referred to as K16N according to amyloid-β (Aβ) numbering) resulting in an early onset dementia with an autosomal dominant inheritance pattern. 22514144

2012
dbSNP: rs63750151
rs63750151
APP
0.010 GeneticVariation BEFREE Here, we describe a novel missense mutation in the amyloid precursor protein (APP) causing a lysine-to-asparagine substitution at position 687 (APP770; herein, referred to as K16N according to amyloid-β (Aβ) numbering) resulting in an early onset dementia with an autosomal dominant inheritance pattern. 22514144

2012
dbSNP: rs1231783932
rs1231783932
APP
0.010 GeneticVariation BEFREE We herein report the case of a German EOAD patient with a family history of dementia and a missense mutation at codon 141 (N141I) </span>of the PSEN2 gene. 19073399

2008
dbSNP: rs533667466
rs533667466
APP
0.010 GeneticVariation BEFREE A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment. 18727676

2008
dbSNP: rs63750579
rs63750579
APP
0.010 GeneticVariation BEFREE The E693Q mutation in the amyloid beta precursor protein (APP) leads to cerebral amyloid angiopathy (CAA), with recurrent cerebral hemorrhagic strokes and dementia. 15311281

2004
dbSNP: rs63750264
rs63750264
APP
0.010 GeneticVariation BEFREE A novel mutation in the APPgene (V717L) has been found in a family with a history of dementia, beginning in the mid to late 30s. 10867787

2000