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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Autosomal Dominant Parkinsonism
|
3 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||||
Lewy Body Variant of Alzheimer Disease
|
2 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
Young onset Parkinson disease
|
32 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.040 | 0.750 | 4 | 1997 | 2002 | ||||||
Neurodegenerative Disorders
|
85 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2002 | 2003 | ||||||
Movement Disorders
|
247 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2002 | 2006 | ||||||
Mitochondrial abnormalities
|
20 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
Amyotrophic Lateral Sclerosis, Familial
|
68 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
Progressive cGVHD
|
40 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
Progressive Neoplastic Disease
|
40 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
Secondary Parkinson Disease
|
1 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
Lewy Body Disease
|
41 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.760 | 1.000 | 6 | 1998 | 2010 | ||||||
Adenomatous Polyposis Coli
|
237 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
Amyloid Neuropathies, Familial
|
16 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
68 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
Behavioral Symptoms
|
9 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
Huntington Disease
|
115 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2007 | 2013 | ||||||
Sleep disturbances
|
74 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
[D]Sleep disturbances (& [hypersomnia] or [insomnia])
|
23 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
5 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.800 | 1.000 | 7 | 1997 | 2015 | ||||||
Sleep Disorders
|
38 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||||
Dystonia
|
97 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
Adult Glioblastoma
|
98 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Childhood Glioblastoma
|
98 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Glioblastoma
|
281 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Glioblastoma Multiforme
|
186 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 |