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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.900 1.000 58 1991 2019
dbSNP: rs63750579
rs63750579
0.742 0.280 21 25891856 missense variant C/G;T snv
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 6 1990 2010
dbSNP: rs63749810
rs63749810
0.882 0.200 21 25891853 missense variant C/T snv
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 0
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: rs63750671
rs63750671
0.790 0.240 21 25891858 missense variant G/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.760 1.000 26 1991 2016
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: rs63750066
rs63750066
0.763 0.160 21 25891796 missense variant C/T snv 9.5E-05 6.3E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.730 1.000 25 1991 2017
dbSNP: rs63750734
rs63750734
0.851 0.080 21 25891790 missense variant C/T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.730 1.000 23 1991 2019
dbSNP: rs63750064
rs63750064
0.925 0.080 21 25897605 missense variant C/G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.720 1.000 21 1991 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
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: rs63749964
rs63749964
0.851 0.080 21 25891783 missense variant A/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.710 1.000 21 1991 2005
dbSNP: rs63751122
rs63751122
0.925 0.080 21 25891765 missense variant A/G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.710 1.000 1 2019 2019
dbSNP: rs63750399
rs63750399
0.882 0.080 21 25891787 missense variant T/A;C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.700 1.000 20 1991 2004
dbSNP: rs63750643
rs63750643
0.882 0.080 21 25891793 missense variant T/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.700 1.000 20 1991 2004
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: 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: rs2829976
rs2829976
21 25900162 intron variant T/G snv 3.6E-02
Low density lipoprotein cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs2829976
rs2829976
21 25900162 intron variant T/G snv 3.6E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs2829976
rs2829976
21 25900162 intron variant T/G snv 3.6E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs2829978
rs2829978
21 25902056 intron variant T/C snv 2.9E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs2829978
rs2829978
21 25902056 intron variant T/C snv 2.9E-02
Low density lipoprotein cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs2829978
rs2829978
21 25902056 intron variant T/C snv 2.9E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs3787629
rs3787629
21 25965603 intron variant T/C snv 0.11
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2012 2012
dbSNP: rs3827216
rs3827216
21 25924954 intron variant A/C snv 1.7E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2012 2012