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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Agraphia
|
1 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Hemispatial Neglect
|
1 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
Motor disturbances
|
1 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
Semantic Dementia
|
4 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
Supranuclear Palsy, Progressive, 1, Atypical
|
4 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Resting Tremor
|
5 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
Personality Change
|
6 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
Supranuclear Palsy, Progressive, 1
|
6 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Argyrophilic grain disease
|
7 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
Apathy
|
9 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
Primary Progressive Nonfluent Aphasia
|
13 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Motor symptoms
|
15 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
Forgetful
|
18 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
GRN-related frontotemporal dementia
|
20 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.040 | 1.000 | 4 | 2016 | 2019 | ||||||
Mitochondrial abnormalities
|
20 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||
Language Disorders
|
25 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Lewy Body Disease
|
41 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
Tauopathies
|
43 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.100 | 0.952 | 21 | 2001 | 2020 | ||||||
Cerebral atrophy
|
44 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
Cognition Disorders
|
47 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Memory impairment
|
48 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2012 | 2017 | ||||||
Progressive supranuclear palsy
|
52 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.070 | 1.000 | 7 | 2014 | 2018 | ||||||
Frontotemporal Lobar Degeneration
|
54 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.050 | 1.000 | 5 | 2008 | 2019 | ||||||
PARKINSON DISEASE, LATE-ONSET
|
76 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Pick Disease of the Brain
|
83 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.800 | 1.000 | 11 | 1998 | 2019 |