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: rs1334791875
rs1334791875
21 25982369 missense variant G/A snv 4.0E-06
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1365502141
rs1365502141
21 26000017 missense variant G/A snv 7.0E-06
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs201817335
rs201817335
21 26051139 missense variant C/T snv 4.0E-06
CUI: C0027066
Disease: Myoclonus
Myoclonus
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2015 2015
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
dbSNP: rs7276737
rs7276737
21 25885689 intron variant C/T snv 0.18
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 1 2019 2019
dbSNP: rs7279104
rs7279104
21 25942455 non coding transcript exon variant G/A snv 2.8E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2012 2012
dbSNP: rs9636774
rs9636774
21 25967316 intron variant C/T snv 5.2E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2012 2012
dbSNP: rs9984764
rs9984764
21 26125180 intron variant G/A snv 1.1E-02
High density lipoprotein measurement
0.700 1.000 1 2012 2012
dbSNP: rs9984764
rs9984764
21 26125180 intron variant G/A snv 1.1E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs9984764
rs9984764
21 26125180 intron variant G/A snv 1.1E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs1800557
rs1800557
0.925 0.040 21 25891795 missense variant G/A snv 4.0E-05 4.2E-05
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.020 1.000 2 1994 1995
dbSNP: rs1216578110
rs1216578110
1.000 0.040 21 25955652 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs140304729
rs140304729
1.000 0.040 21 25911855 missense variant C/T snv 1.4E-03 1.4E-03
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1800557
rs1800557
0.925 0.040 21 25891795 missense variant G/A snv 4.0E-05 4.2E-05
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders
Mental Disorders 0.010 1.000 1 1994 1994
dbSNP: rs1800557
rs1800557
0.925 0.040 21 25891795 missense variant G/A snv 4.0E-05 4.2E-05
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
Mental Disorders 0.010 1.000 1 1994 1994
dbSNP: rs201269325
rs201269325
1.000 0.040 21 25891808 missense variant C/A;T snv 4.0E-05 2.8E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2096488
rs2096488
1.000 0.040 21 25971876 intron variant A/C snv 0.17
CUI: C0271160
Disease: Cortical cataract
Cortical cataract
Eye Diseases 0.010 1.000 1 2012 2012
dbSNP: rs466448
rs466448
0.925 0.040 21 26171790 intron variant A/C;G snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 1.000 1 2015 2015