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: C0233514
Disease: Abnormal behavior
Abnormal behavior
Behavior and Behavior Mechanisms 0.020 1.000 2 2000 2010
dbSNP: rs63750847
rs63750847
0.790 0.120 21 25897620 missense variant C/T snv 4.5E-04 3.0E-04
CUI: C0236848
Disease: Age-related cognitive decline
Age-related cognitive decline
Mental Disorders 0.020 1.000 2 2014 2017
dbSNP: rs281865161
rs281865161
0.925 0.080 21 25897626 missense variant TC/GA mnv
CUI: C2931257
Disease: Alzheimer disease type 1
Alzheimer disease type 1
Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63749964
rs63749964
0.851 0.080 21 25891783 missense variant A/C snv
CUI: C2931257
Disease: Alzheimer disease type 1
Alzheimer disease type 1
Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750066
rs63750066
0.763 0.160 21 25891796 missense variant C/T snv 9.5E-05 6.3E-05
CUI: C2931257
Disease: Alzheimer disease type 1
Alzheimer disease type 1
Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750264
rs63750264
0.716 0.360 21 25891784 missense variant C/A;G;T snv
CUI: C2931257
Disease: Alzheimer disease type 1
Alzheimer disease type 1
Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750399
rs63750399
0.882 0.080 21 25891787 missense variant T/A;C snv
CUI: C2931257
Disease: Alzheimer disease type 1
Alzheimer disease type 1
Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750643
rs63750643
0.882 0.080 21 25891793 missense variant T/C snv
CUI: C2931257
Disease: Alzheimer disease type 1
Alzheimer disease type 1
Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750671
rs63750671
0.790 0.240 21 25891858 missense variant G/C snv
CUI: C2931257
Disease: Alzheimer disease type 1
Alzheimer disease type 1
Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750734
rs63750734
0.851 0.080 21 25891790 missense variant C/T snv
CUI: C2931257
Disease: Alzheimer disease type 1
Alzheimer disease type 1
Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750973
rs63750973
0.882 0.120 21 25891792 missense variant G/A snv
CUI: C2931257
Disease: Alzheimer disease type 1
Alzheimer disease type 1
Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63751039
rs63751039
0.776 0.200 21 25891855 missense variant T/C snv
CUI: C2931257
Disease: Alzheimer disease type 1
Alzheimer disease type 1
Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs63750066
rs63750066
0.763 0.160 21 25891796 missense variant C/T snv 9.5E-05 6.3E-05
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
Nervous System Diseases; Mental Disorders 0.700 1.000 10 1992 2018
dbSNP: rs63750264
rs63750264
0.716 0.360 21 25891784 missense variant C/A;G;T snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
Nervous System Diseases; Mental Disorders 0.080 1.000 8 1996 2019
dbSNP: rs1191863771
rs1191863771
0.925 0.080 21 25911833 missense variant A/G snv 4.0E-06
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2004 2004
dbSNP: rs1208508997
rs1208508997
1.000 0.080 21 26051097 missense variant G/C snv 4.0E-06
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs1223904774
rs1223904774
0.790 0.120 21 25891772 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs1231783932
rs1231783932
0.763 0.120 21 26051171 missense variant T/A;C snv 1.2E-05
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs1275544322
rs1275544322
0.882 0.160 21 25975185 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2000 2000
dbSNP: rs1396086494
rs1396086494
0.851 0.080 21 26051069 missense variant G/A snv 4.0E-06
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs200347552
rs200347552
0.925 0.080 21 26090000 missense variant G/A snv 1.6E-05 3.5E-05
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs367709245
rs367709245
1.000 0.080 21 25891634 intron variant TACTTA/- delins 2.3E-03
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs371425292
rs371425292
0.763 0.160 21 25897627 missense variant C/A;T snv 8.0E-06
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs372642708
rs372642708
0.925 0.080 21 26051152 missense variant C/T snv 2.4E-05 9.8E-05
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs572842823
rs572842823
0.763 0.160 21 25897626 missense variant T/A;G snv
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010