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: rs364048
rs364048
1.000 0.080 21 26171723 intron variant T/C snv 8.4E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs466433
rs466433
1.000 0.080 21 26171645 intron variant A/G snv 8.3E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs63750921
rs63750921
0.882 0.200 21 25891820 missense variant G/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs755525590
rs755525590
1.000 0.080 21 26051028 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs772020679
rs772020679
1.000 0.080 21 26053285 missense variant C/G snv 4.0E-06 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs772069024
rs772069024
0.882 0.080 21 26021858 missense variant C/G;T snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs777260127
rs777260127
1.000 0.080 21 26089993 missense variant C/T snv 1.6E-05 4.9E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs778758780
rs778758780
1.000 0.080 21 25975137 missense variant A/G snv 8.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs781215285
rs781215285
1.000 0.080 21 26051030 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 2001 2001
dbSNP: rs63750973
rs63750973
0.882 0.120 21 25891792 missense variant G/A snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.720 1.000 2 2000 2008
dbSNP: rs1275544322
rs1275544322
0.882 0.160 21 25975185 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.020 1.000 2 2000 2018
dbSNP: rs1468425505
rs1468425505
1.000 0.080 21 26022019 missense variant G/A snv 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.020 0.500 2 2004 2006
dbSNP: rs201732035
rs201732035
1.000 0.080 21 26021924 missense variant G/A;T snv 4.1E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.020 1.000 2 2003 2008
dbSNP: rs63750151
rs63750151
0.882 0.080 21 25891761 missense variant C/G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.020 1.000 2 2006 2018
dbSNP: rs63750579
rs63750579
0.742 0.280 21 25891856 missense variant C/G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.020 1.000 2 2000 2002
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: rs281865161
rs281865161
0.925 0.080 21 25897626 missense variant TC/GA mnv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.700 1.000 3 1996 2013
dbSNP: rs193922916
rs193922916
0.827 0.080 21 25897619 missense variant G/A;C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.740 1.000 4 2009 2017
dbSNP: rs1223904774
rs1223904774
0.790 0.120 21 25891772 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.060 1.000 6 1997 2014
dbSNP: rs371425292
rs371425292
0.763 0.160 21 25897627 missense variant C/A;T snv 8.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.080 1.000 8 1998 2018
dbSNP: rs781049584
rs781049584
0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.080 1.000 8 2002 2014
dbSNP: rs63751039
rs63751039
0.776 0.200 21 25891855 missense variant T/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.790 1.000 9 2001 2019
dbSNP: rs63749810
rs63749810
0.882 0.200 21 25891853 missense variant C/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.720 1.000 10 2001 2019