APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs63750264
rs63750264
0.716 0.360 21 25891784 missense variant C/A;G;T snv
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
Pathological Conditions, Signs and Symptoms 0.020 1.000 2 1997 2000
dbSNP: rs781049584
rs781049584
0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2009 2014
dbSNP: rs1412095491
rs1412095491
0.882 0.200 21 26051053 missense variant C/G snv 4.0E-06
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2000 2000
dbSNP: rs63750579
rs63750579
0.742 0.280 21 25891856 missense variant C/G;T snv
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2010 2010
dbSNP: rs63750671
rs63750671
0.790 0.240 21 25891858 missense variant G/C snv
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
Pathological Conditions, Signs and Symptoms 0.010 1.000 1 1998 1998