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
|
215 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.900 | 1.000 | 39 | 1998 | 2019 | |||||
Pick Disease of the Brain
|
83 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.800 | 1.000 | 11 | 2000 | 2019 | |||||
Parkinsonian Disorders
|
95 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.100 | 1.000 | 10 | 2000 | 2019 | |||||
Pallidopontonigral degeneration
|
1 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.040 | 1.000 | 4 | 2000 | 2007 | |||||
Dementia
|
176 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.030 | 1.000 | 3 | 1999 | 2015 | |||||
Presenile dementia
|
159 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.030 | 1.000 | 3 | 1999 | 2015 | |||||
Tauopathies
|
43 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.030 | 1.000 | 3 | 1999 | 2007 | |||||
Hyperactive behavior
|
112 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.020 | 1.000 | 2 | 2003 | 2005 | |||||
Impaired cognition
|
348 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.020 | 1.000 | 2 | 2005 | 2012 | |||||
Supranuclear paralysis
|
1 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.020 | 1.000 | 2 | 1999 | 2002 | |||||
Alzheimer Disease, Early Onset
|
96 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
Autonomic nervous system disorders
|
7 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
Cognition Disorders
|
47 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
Dysautonomia
|
18 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
Frontotemporal Lobar Degeneration
|
54 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
Hyperkinesia
|
6 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
Myoclonus
|
34 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
Neurodegenerative Disorders
|
85 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
Primary Progressive Nonfluent Aphasia
|
13 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
Tremor
|
52 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
PARKINSON DISEASE, LATE-ONSET
|
76 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.700 | 0 | ||||||||
Supranuclear Palsy, Progressive, 1
|
6 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.700 | 0 | ||||||||
Supranuclear Palsy, Progressive, 1, Atypical
|
4 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.700 | 0 |