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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Creutzfeldt-Jakob disease
|
52 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.900 | 1.000 | 44 | 1990 | 2019 | |||||
HUNTINGTON DISEASE-LIKE 1
|
4 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 22 | 1989 | 2016 | |||||
Prion Diseases
|
67 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.800 | 0.944 | 18 | 1995 | 2019 | |||||
Creutzfeldt-Jakob Disease, Familial
|
16 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.100 | 1.000 | 15 | 1996 | 2017 | |||||
Other Creutzfeldt-Jakob disease
|
18 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.100 | 1.000 | 11 | 1996 | 2014 | |||||
Sporadic CJD
|
17 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.050 | 0.800 | 5 | 1999 | 2019 | |||||
Creutzfeldt-Jakob Disease, Sporadic
|
23 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 2010 | 2019 | |||||
Fatal Familial Insomnia
|
16 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.740 | 1.000 | 4 | 2001 | 2017 | |||||
Familial (FPAH)
|
276 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2020 | |||||
Familial Creutzfeldt-Jakob
|
1 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2012 | 2019 | |||||
Sleep Disorders
|
38 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2015 | |||||
Amnesia
|
12 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
Ataxia
|
68 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
Central neuroblastoma
|
231 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
Cerebellar Ataxia
|
120 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
Childhood Neuroblastoma
|
231 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
Comatose
|
1 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
Dysarthria
|
54 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
Dyssomnias
|
10 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
Gerstmann-Straussler-Scheinker Disease
|
39 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
Memory Loss
|
10 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
Multiple Chronic Conditions
|
42 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
Neuroblastoma
|
386 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
Sleep disturbances
|
74 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
Sleeplessness
|
30 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 |