Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750847
rs63750847
APP
0.010 GeneticVariation BEFREE This is the first report to show decreased levels in plasma in APP A673T carriers and thus provides evidence that lower levels throughout life may be protective against AD.Ann Neurol 2017;82:128-132. 28556232

2017

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

2013

dbSNP: rs529782627
rs529782627
APP
0.010 GeneticVariation BEFREE The K16N mutation is located exactly at the α-secretase cleavage site and influences both APP and . 22514144

2012

dbSNP: rs950592627
rs950592627
APP
0.010 GeneticVariation BEFREE As the single substitution of Glu for Gln at position 22 of this peptide seems to be responsible for the manifestation of the more severe amyloidosis (Dutch-type), we decided to evaluate the aggregation characteristics of peptide analogs interchanging Glu and Gln residues at positions 22 and also 15 in the minor (12-24) (VHHQ(15)KLVFFAE(22)DV) fragment. 21904866

2011

dbSNP: rs371425292
rs371425292
APP
0.010 GeneticVariation BEFREE This strain, which over-expresses both the 695 amino acid isoform of human amyloid precursor protein (APP) with K670N and M671L mutations and presenilin 1 with the A246E mutation, has accelerated amyloidosis and plaque formation. 20630068

2010

dbSNP: rs572842823
rs572842823
APP
0.010 GeneticVariation BEFREE This strain, which over-expresses both the 695 amino acid isoform of human amyloid precursor protein (APP) with K670N and M671L mutations and presenilin 1 with the A246E mutation, has accelerated amyloidosis and plaque formation. 20630068

2010

dbSNP: rs763852444
rs763852444
APP
0.010 GeneticVariation BEFREE Alteration of this ASID by deletion or mutation, as is seen with the Flemish mutation (A21G), reduces its inhibitory potency and promotes Agamma production. 20062056

2010

dbSNP: rs781049584
rs781049584
APP
0.010 GeneticVariation BEFREE This strain, which over-expresses both the 695 amino acid isoform of human amyloid precursor protein (APP) with K670N and M671L mutations and presenilin 1 with the A246E mutation, has accelerated amyloidosis and plaque formation. 20630068

2010