BACE1, beta-secretase 1, 23621

N. diseases: 120; N. variants: 8
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: rs1047964
rs1047964 		11 117286177 3 prime UTR variant G/A;C;T snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.710 1.000 1 2011 2011
dbSNP: rs1047964
rs1047964 		11 117286177 3 prime UTR variant G/A;C;T snv
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement 		0.700 1.000 1 2011 2011
dbSNP: rs142093337
rs142093337 		11 117306667 intron variant C/A;T snv
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs142093337
rs142093337 		11 117306667 intron variant C/A;T snv
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs638405
rs638405 		0.851 0.160 11 117293108 synonymous variant C/G snv 0.49 0.46
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.030 1.000 3 2008 2017
dbSNP: rs759223338
rs759223338 		0.925 0.080 11 117291736 synonymous variant G/C snv 1.6E-05 7.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2003 2016
dbSNP: rs1047964
rs1047964 		11 117286177 3 prime UTR variant G/A;C;T snv
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1335506651
rs1335506651 		1.000 0.080 11 117295265 missense variant 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 2010 2010
dbSNP: rs490460
rs490460 		1.000 0.040 11 117293049 splice region variant C/A;T snv 0.74
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs535860
rs535860 		1.000 0.080 11 117289162 3 prime UTR variant A/T snv 0.12
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs535860
rs535860 		1.000 0.080 11 117289162 3 prime UTR variant A/T snv 0.12
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs638405
rs638405 		0.851 0.160 11 117293108 synonymous variant C/G snv 0.49 0.46
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs638405
rs638405 		0.851 0.160 11 117293108 synonymous variant C/G snv 0.49 0.46
CUI: C4310512
Disease: Sporadic CJD
Sporadic CJD 		Infections; Nervous System Diseases; Mental Disorders; Animal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs638405
rs638405 		0.851 0.160 11 117293108 synonymous variant C/G snv 0.49 0.46
CUI: C2900450
Disease: Other Creutzfeldt-Jakob disease
Other Creutzfeldt-Jakob disease 		Infections; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs676134
rs676134 		1.000 0.080 11 117309175 intron variant C/T snv 0.52
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2008 2008
dbSNP: rs759223338
rs759223338 		0.925 0.080 11 117291736 synonymous variant G/C snv 1.6E-05 7.0E-06
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2005 2005