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: rs762508225
rs762508225
0.925 0.080 21 26000044 missense variant T/G snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.020 1.000 2 2008 2020
dbSNP: rs763852444
rs763852444
0.882 0.120 21 26112127 missense variant G/C snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.020 1.000 2 2001 2008
dbSNP: rs950592627
rs950592627
0.827 0.200 21 26090015 missense variant G/C snv 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.020 1.000 2 2001 2008
dbSNP: rs1038162399
rs1038162399
0.925 0.080 21 25911954 missense variant G/A snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs1041833271
rs1041833271
0.925 0.080 21 25975995 missense variant C/T snv 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs113145702
rs113145702
1.000 0.080 21 25955632 missense variant A/G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1183474845
rs1183474845
1.000 0.080 21 26053328 missense variant C/T snv 8.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs1191863771
rs1191863771
0.925 0.080 21 25911833 missense variant A/G snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 1998 1998
dbSNP: rs1193124736
rs1193124736
0.851 0.120 21 25982462 missense variant G/T snv 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs1200601649
rs1200601649
0.925 0.080 21 26022022 missense variant A/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1220355764
rs1220355764
0.925 0.080 21 26022037 missense variant T/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1224230940
rs1224230940
1.000 0.080 21 26053304 missense variant T/C snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs1260168075
rs1260168075
1.000 0.080 21 25975217 missense variant C/G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs1281129992
rs1281129992
0.882 0.080 21 25891730 missense variant C/T snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2003 2003
dbSNP: rs1287723181
rs1287723181
1.000 0.080 21 25954680 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1297968881
rs1297968881
0.882 0.200 21 26112137 missense variant C/T snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs1315025573
rs1315025573
0.925 0.080 21 25891849 missense variant A/C;G snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1412095491
rs1412095491
0.882 0.200 21 26051053 missense variant C/G snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2000 2000
dbSNP: rs199887707
rs199887707
0.882 0.080 21 25911840 missense variant C/T snv 3.8E-04 4.9E-04
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2003 2003
dbSNP: rs200074159
rs200074159
0.925 0.080 21 26000036 missense variant T/C snv 2.8E-05 5.6E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2005 2005
dbSNP: rs200347552
rs200347552
0.925 0.080 21 26090000 missense variant G/A snv 1.6E-05 3.5E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs200396597
rs200396597
1.000 0.080 21 25881743 missense variant C/T snv 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2018 2018
dbSNP: rs200620364
rs200620364
0.925 0.080 21 26021849 missense variant C/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs201093867
rs201093867
0.925 0.080 21 26021995 missense variant A/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs201792381
rs201792381
1.000 0.080 21 25997384 missense variant G/A;C snv 1.6E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018