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.
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
94 0.692 0.250 17 46010389 missense variant C/T snp 0.900 1.000 28 1998 2018
Progressive supranuclear palsy
CUI: C0038868
Disease: Progressive supranuclear palsy
22 0.692 0.250 17 46010389 missense variant C/T snp 0.720 1.000 8 1998 2016
Pallidopontonigral degeneration
CUI: C0520716
Disease: Pallidopontonigral degeneration
12 0.692 0.250 17 46010389 missense variant C/T snp 0.700 5 1998 1999
Pick Complex
CUI: C1838313
Disease: Pick Complex
12 0.692 0.250 17 46010389 missense variant C/T snp 0.700 5 1998 1999
Tauopathies
CUI: C0949664
Disease: Tauopathies
18 0.692 0.250 17 46010389 missense variant C/T snp 0.100 0.923 13 2001 2018
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
51 0.692 0.250 17 46010389 missense variant C/T snp 0.080 1.000 8 1998 2018
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
1062 0.692 0.250 17 46010389 missense variant C/T snp 0.050 1.000 5 2003 2016
Dementia
CUI: C0497327
Disease: Dementia
107 0.692 0.250 17 46010389 missense variant C/T snp 0.030 1.000 3 1999 2003
Frontotemporal Lobar Degeneration
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
37 0.692 0.250 17 46010389 missense variant C/T snp 0.020 1.000 2 2008 2016
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
102 0.692 0.250 17 46010389 missense variant C/T snp 0.020 1.000 2 1999 2003
Anxiety
CUI: C0003467
Disease: Anxiety
69 0.692 0.250 17 46010389 missense variant C/T snp 0.010 1.000 1 2004 2004
Anxiety Disorders
CUI: C0003469
Disease: Anxiety Disorders
79 0.692 0.250 17 46010389 missense variant C/T snp 0.010 1.000 1 2004 2004
Argyrophilic grain disease
CUI: C0338460
Disease: Argyrophilic grain disease
5 0.692 0.250 17 46010389 missense variant C/T snp 0.010 1.000 1 2013 2013
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
87 0.692 0.250 17 46010389 missense variant C/T snp 0.010 1.000 1 2016 2016
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
331 0.692 0.250 17 46010389 missense variant C/T snp 0.010 1.000 1 2009 2009
Creutzfeldt-Jakob Disease, Sporadic
CUI: C1852467
Disease: Creutzfeldt-Jakob Disease, Sporadic
17 0.692 0.250 17 46010389 missense variant C/T snp 0.010 1.000 1 2016 2016
GRN-related frontotemporal dementia
CUI: C3811918
Disease: GRN-related frontotemporal dementia
12 0.692 0.250 17 46010389 missense variant C/T snp 0.010 1.000 1 2016 2016
Hemispatial Neglect
CUI: C0751421
Disease: Hemispatial Neglect
1 0.692 0.250 17 46010389 missense variant C/T snp 0.010 1 2011 2011
Memory impairment
CUI: C0233794
Disease: Memory impairment
22 0.692 0.250 17 46010389 missense variant C/T snp 0.010 1.000 1 2012 2012
Motor symptoms
CUI: C0426980
Disease: Motor symptoms
6 0.692 0.250 17 46010389 missense variant C/T snp 0.010 1.000 1 2008 2008
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
288 0.692 0.250 17 46010389 missense variant C/T snp 0.010 1.000 1 2016 2016
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
64 0.692 0.250 17 46010389 missense variant C/T snp 0.010 1.000 1 2002 2002
Personality change
CUI: C0240735
Disease: Personality change
4 0.692 0.250 17 46010389 missense variant C/T snp 0.010 1.000 1 2002 2002
Semantic Dementia
CUI: C0338462
Disease: Semantic Dementia
1 0.692 0.250 17 46010389 missense variant C/T snp 0.010 1.000 1 2011 2011
Senile Plaques
CUI: C0333463
Disease: Senile Plaques
27 0.692 0.250 17 46010389 missense variant C/T snp 0.010 1.000 1 1999 1999