Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751039
rs63751039
APP
0.790 GeneticVariation BEFREE We studied a new amyloid-beta precursor protein (<i>App</i>) knock-in mouse model of Alzheimer's disease (<i>App<sup>NL-G-F</sup></i> ), containing the Swedish KM670/671NL mutation, the Iberian I716F mutation and the Artic E693G mutation, which generates elevated levels of amyloid beta (Aβ)<sub>40</sub> and Aβ<sub>42</sub> without the confounds associated with APP overexpression. 31439589

2019

dbSNP: rs63751039
rs63751039
APP
0.790 GeneticVariation BEFREE Here we demonstrate the utility of a robust, cost-optimized cell-free expression technique for production of the physiologically important transmembrane fragment of amyloid precursor protein, APP686-726, containing Alzheimer's disease mutations in the juxtamembrane (E693G, Arctic form) and the transmembrane parts (V717G, London form, or L723P, Australian form). 27071311

2016

dbSNP: rs63751039
rs63751039
APP
0.790 GeneticVariation BEFREE In a transgenic (Tg) mouse model of AD expressing amyloid precursor protein (APP) with the arctic (E693G) mutation, pathology spreads along anatomically connected structures. 24517102

2014

dbSNP: rs63751039
rs63751039
APP
0.790 GeneticVariation BEFREE The Arctic mutation (p.E693G/p.E22G)fs within the β-amyloid (Aβ) region of the β-amyloid precursor protein gene causes an autosomal dominant disease with clinical picture of typical Alzheimer's disease. 24252272

2013

dbSNP: rs63751039
rs63751039
APP
0.790 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
0.790 GeneticVariation BEFREE The Arctic (p. E693G) mutation in the amyloid-β precursor protein (AβPP) facilitates amyloid-β (Aβ) protofibril formation and generates clinical symptoms of Alzheimer's disease (AD). 22118948

2012

dbSNP: rs63751039
rs63751039
APP
0.790 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: rs63751039
rs63751039
APP
0.790 GeneticVariation BEFREE In contrast, the Arctic mutation (APP E693G) results in Alzheimer's disease. 17448150

2007

dbSNP: rs63751039
rs63751039
APP
0.790 GeneticVariation BEFREE The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation. 11528419

2001

dbSNP: rs63751039
rs63751039
APP
0.790 GeneticVariation UNIPROT