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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Movement Disorders
|
247 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.720 | 1.000 | 10 | 2004 | 2018 | ||||
Parkinson Disease
|
990 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.900 | 0.996 | 260 | 2005 | 2020 | ||||
Sporadic Parkinson disease
|
65 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.100 | 0.968 | 31 | 2005 | 2019 | ||||
Parkinsonian Disorders
|
95 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.100 | 0.958 | 24 | 2005 | 2020 | ||||
PARKINSON DISEASE, LATE-ONSET
|
76 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.100 | 1.000 | 19 | 2005 | 2019 | ||||
Parkinson Disease, Familial, Type 1
|
27 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.100 | 1.000 | 10 | 2005 | 2015 | ||||
PARKINSON DISEASE 8 (disorder)
|
33 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.810 | 1.000 | 7 | 2005 | 2015 | ||||
Autosomal Dominant Parkinsonism
|
3 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.020 | 1.000 | 2 | 2005 | 2007 | ||||
Familial (FPAH)
|
276 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.100 | 1.000 | 32 | 2006 | 2019 | ||||
Lewy Body Disease
|
41 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.030 | 0.667 | 3 | 2006 | 2016 | ||||
Dementia
|
176 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.020 | 0.500 | 2 | 2006 | 2012 | ||||
Neurodegenerative Disorders
|
85 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.020 | 1.000 | 2 | 2006 | 2014 | ||||
Presenile dementia
|
159 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.020 | 0.500 | 2 | 2006 | 2012 | ||||
Acute myocardial infarction
|
118 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.010 | 1 | 2006 | 2006 | |||||
Essential Tremor
|
79 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
Gaucher Disease
|
82 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
Dyskinetic syndrome
|
42 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.050 | 1.000 | 5 | 2007 | 2018 | ||||
Alzheimer's Disease
|
1843 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.040 | 0.750 | 4 | 2007 | 2019 | ||||
Alzheimer Disease, Late Onset
|
243 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.030 | 0.667 | 3 | 2007 | 2009 | ||||
Frontotemporal Lobar Degeneration
|
54 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.020 | 1.000 | 2 | 2007 | 2008 | ||||
GRN-related frontotemporal dementia
|
20 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.020 | 1.000 | 2 | 2007 | 2008 | ||||
Muscle Rigidity
|
25 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.020 | 1.000 | 2 | 2007 | 2010 | ||||
Alzheimer disease, familial, type 3
|
124 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
Tremor
|
52 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
Sense of smell impaired
|
12 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.040 | 1.000 | 4 | 2008 | 2018 |