Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
5 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 1.000 1 2016 2016
Personality Change
CUI: C0240735
Disease: Personality Change
6 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 1.000 1 2014 2014
Apraxias
CUI: C0003635
Disease: Apraxias
9 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 1.000 1 2014 2014
Primary Progressive Aphasia (disorder)
11 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 1.000 1 2019 2019
Psychiatric symptom
CUI: C0233401
Disease: Psychiatric symptom
12 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 1.000 1 2014 2014
Sporadic CJD
CUI: C4310512
Disease: Sporadic CJD
17 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 1.000 1 2014 2014
GRN-related frontotemporal dementia
CUI: C3811918
Disease: GRN-related frontotemporal dementia
20 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 1.000 1 2018 2018
Creutzfeldt-Jakob disease
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
52 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 1.000 1 2014 2014
Progressive supranuclear palsy
CUI: C0038868
Disease: Progressive supranuclear palsy
52 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 1 2013 2013
Frontotemporal Lobar Degeneration
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
54 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.020 1.000 2 2015 2018
Essential Tremor
CUI: C0270736
Disease: Essential Tremor
79 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 1.000 1 2015 2015
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
83 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.040 1.000 4 2013 2016
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
85 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.070 0.857 7 2013 2020
Amyotrophic Lateral Sclerosis, Sporadic
90 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 1.000 1 2014 2014
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
96 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.020 1.000 2 2013 2014
Mild cognitive disorder
CUI: C1270972
Disease: Mild cognitive disorder
96 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.020 1.000 2 2014 2015
Huntington Disease
CUI: C0020179
Disease: Huntington Disease
115 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 1.000 1 2020 2020
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
121 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 1.000 1 2020 2020
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.020 0.500 2 2014 2015
Dementia
CUI: C0497327
Disease: Dementia
176 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.020 0.500 2 2014 2015
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
215 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.060 0.833 6 2013 2016
Alzheimer Disease, Late Onset
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
243 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.080 1.000 8 2013 2019
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 1.000 1 2020 2020
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
485 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.060 0.833 6 2013 2015
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
704 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.010 1 2013 2013