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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Motor Neuron Disease
|
52 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||||
Amyotrophic Lateral Sclerosis, Familial
|
68 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 0.100 | 1.000 | 10 | 1999 | 2009 | ||||||
Paresis
|
49 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
Amyotrophic Lateral Sclerosis
|
485 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 0.100 | 1.000 | 13 | 2002 | 2018 | ||||||
Motor neuron atrophy
|
21 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 0.030 | 1.000 | 3 | 2002 | 2007 | ||||||
AMYOTROPHIC LATERAL SCLEROSIS 1
|
139 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2002 | 2009 | ||||||
Behavioral Symptoms
|
9 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
Central neuroblastoma
|
231 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2005 | 2007 | ||||||
Childhood Neuroblastoma
|
231 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2005 | 2007 | ||||||
Neuroblastoma
|
386 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2005 | 2007 | ||||||
Mitochondrial pathology
|
6 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2007 | 2015 | ||||||
Neurologic Symptoms
|
30 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
Familial (FPAH)
|
276 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2012 | 2016 | ||||||
Motor symptoms
|
15 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
nervous system disorder
|
39 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
Amyloidosis
|
93 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Frontotemporal dementia
|
215 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
Progressive supranuclear palsy
|
52 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |