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: rs202218688
rs202218688
1.000 0.080 21 26000131 missense variant C/A;T snv 4.0E-06; 5.6E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs2830077
rs2830077
1.000 0.080 21 26130406 intron variant C/A snv 0.38
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
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