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: rs63750066
rs63750066
0.763 0.160 21 25891796 missense variant C/T snv 9.5E-05 6.3E-05
CUI: C0085220
Disease: Cerebral Amyloid Angiopathy
Cerebral Amyloid Angiopathy
Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2004 2017
dbSNP: rs63750579
rs63750579
0.742 0.280 21 25891856 missense variant C/G;T snv
CUI: C0085220
Disease: Cerebral Amyloid Angiopathy
Cerebral Amyloid Angiopathy
Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2004 2018
dbSNP: rs1275544322
rs1275544322
0.882 0.160 21 25975185 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0085220
Disease: Cerebral Amyloid Angiopathy
Cerebral Amyloid Angiopathy
Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1297968881
rs1297968881
0.882 0.200 21 26112137 missense variant C/T snv 4.0E-06
CUI: C0085220
Disease: Cerebral Amyloid Angiopathy
Cerebral Amyloid Angiopathy
Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1412095491
rs1412095491
0.882 0.200 21 26051053 missense variant C/G snv 4.0E-06
CUI: C0085220
Disease: Cerebral Amyloid Angiopathy
Cerebral Amyloid Angiopathy
Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2000 2000
dbSNP: rs63750671
rs63750671
0.790 0.240 21 25891858 missense variant G/C snv
CUI: C0085220
Disease: Cerebral Amyloid Angiopathy
Cerebral Amyloid Angiopathy
Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2002 2002
dbSNP: rs950592627
rs950592627
0.827 0.200 21 26090015 missense variant G/C snv 7.0E-06
CUI: C0085220
Disease: Cerebral Amyloid Angiopathy
Cerebral Amyloid Angiopathy
Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2005 2005