Source: ALL
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.
Migraine, Familial Hemiplegic, 3
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
14 0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 0.700 1.000 4 2005 2009
Epilepsy, Rolandic
CUI: C0376532
Disease: Epilepsy, Rolandic
81 0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 0.700 1.000 1 2018 2018
Ataxic
CUI: C0234366
Disease: Ataxic
4 0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 0.010 1.000 1 2007 2007
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
331 0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 0.010 1.000 1 2013 2013
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 0.010 1.000 1 2013 2013
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
43 0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 0.010 1.000 1 2011 2011
Familial Hemiplegic Migraine
CUI: C0338484
Disease: Familial Hemiplegic Migraine
17 0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 0.010 1.000 1 2013 2013
Hemiplegic migraine
CUI: C0270862
Disease: Hemiplegic migraine
14 0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 0.010 1.000 1 2013 2013
Hemiplegic migraine, familial type 1
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
37 0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 0.010 1.000 1 2013 2013
Infantile Severe Myoclonic Epilepsy
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
32 0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 0.010 1.000 1 2011 2011
Myoclonus
CUI: C0027066
Disease: Myoclonus
34 0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 0.010 1.000 1 2007 2007
Pervasive Development Disorder
CUI: C0524528
Disease: Pervasive Development Disorder
49 0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 0.010 1.000 1 2013 2013
Refractory myoclonic epilepsy
CUI: C3698357
Disease: Refractory myoclonic epilepsy
1 0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 0.010 1.000 1 2013 2013
Seizures
CUI: C0036572
Disease: Seizures
553 0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 0.010 1.000 1 2013 2013