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 0.734 0.107 17 46010324 missense variant T/G snp 2.6E-05 0.900 1.000 17 1992 2016
Pallidopontonigral degeneration
CUI: C0520716
Disease: Pallidopontonigral degeneration
12 0.734 0.107 17 46010324 missense variant T/G snp 2.6E-05 0.730 1.000 7 1998 2007
Pick Complex
CUI: C1838313
Disease: Pick Complex
12 0.734 0.107 17 46010324 missense variant T/G snp 2.6E-05 0.700 5 1998 2003
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
51 0.734 0.107 17 46010324 missense variant T/G snp 2.6E-05 0.070 1.000 7 2000 2016
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
64 0.734 0.107 17 46010324 missense variant T/G snp 2.6E-05 0.050 1.000 5 2000 2016
Dementia
CUI: C0497327
Disease: Dementia
107 0.734 0.107 17 46010324 missense variant T/G snp 2.6E-05 0.030 1.000 3 1999 2016
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
102 0.734 0.107 17 46010324 missense variant T/G snp 2.6E-05 0.030 1.000 3 1999 2016
Tauopathies
CUI: C0949664
Disease: Tauopathies
18 0.734 0.107 17 46010324 missense variant T/G snp 2.6E-05 0.030 1.000 3 1999 2007
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
59 0.734 0.107 17 46010324 missense variant T/G snp 2.6E-05 0.020 1.000 2 2003 2005
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
121 0.734 0.107 17 46010324 missense variant T/G snp 2.6E-05 0.020 1.000 2 2005 2013
Supranuclear paralysis
CUI: C0270920
Disease: Supranuclear paralysis
1 0.734 0.107 17 46010324 missense variant T/G snp 2.6E-05 0.020 1.000 2 1999 2002
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
55 0.734 0.107 17 46010324 missense variant T/G snp 2.6E-05 0.010 1.000 1 2011 2011
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
120 0.734 0.107 17 46010324 missense variant T/G snp 2.6E-05 0.010 1.000 1 2005 2005
Cognition Disorders
CUI: C0009241
Disease: Cognition Disorders
29 0.734 0.107 17 46010324 missense variant T/G snp 2.6E-05 0.010 1.000 1 2005 2005
Frontotemporal Lobar Degeneration
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
37 0.734 0.107 17 46010324 missense variant T/G snp 2.6E-05 0.010 1.000 1 2006 2006
Myoclonus
CUI: C0027066
Disease: Myoclonus
11 0.734 0.107 17 46010324 missense variant T/G snp 2.6E-05 0.010 1.000 1 2003 2003
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
41 0.734 0.107 17 46010324 missense variant T/G snp 2.6E-05 0.010 1.000 1 2016 2016
Tremor
CUI: C0040822
Disease: Tremor
27 0.734 0.107 17 46010324 missense variant T/G snp 2.6E-05 0.010 1.000 1 2003 2003