Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777721
rs587777721
0.925 0.160 12 51806336 missense variant G/A snv
SCN8A-related epilepsy with encephalopathy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 18 2012 2017
dbSNP: rs587780586
rs587780586
0.882 0.160 12 51765675 missense variant G/A snv
SCN8A-related epilepsy with encephalopathy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 18 2002 2017
dbSNP: rs879255705
rs879255705
1.000 0.160 12 51794633 missense variant C/G snv
SCN8A-related epilepsy with encephalopathy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 17 2012 2017
dbSNP: rs879255697
rs879255697
1.000 0.160 12 51699642 missense variant T/C snv
SCN8A-related epilepsy with encephalopathy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 16 2012 2017
dbSNP: rs879255698
rs879255698
1.000 0.160 12 51705503 missense variant G/C snv
SCN8A-related epilepsy with encephalopathy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 16 2012 2017
dbSNP: rs879255702
rs879255702
1.000 0.160 12 51765794 missense variant G/A snv
SCN8A-related epilepsy with encephalopathy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 16 2012 2017
dbSNP: rs879255704
rs879255704
0.925 0.160 12 51786578 missense variant A/G snv
SCN8A-related epilepsy with encephalopathy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 16 2012 2017
dbSNP: rs397514738
rs397514738
1.000 0.160 12 51786590 missense variant C/G snv
SCN8A-related epilepsy with encephalopathy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 15 2012 2017
dbSNP: rs587777722
rs587777722
1.000 0.160 12 51789397 missense variant C/A snv
SCN8A-related epilepsy with encephalopathy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 15 2012 2017
dbSNP: rs587777723
rs587777723
1.000 0.160 12 51789396 missense variant A/C;G snv
SCN8A-related epilepsy with encephalopathy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 15 2012 2017
dbSNP: rs587780454
rs587780454
1.000 0.160 12 51794620 missense variant G/A;C snv
SCN8A-related epilepsy with encephalopathy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 15 2012 2017
dbSNP: rs587780455
rs587780455
0.827 0.160 12 51807116 missense variant A/G snv
SCN8A-related epilepsy with encephalopathy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 15 2012 2017
dbSNP: rs672601319
rs672601319
0.925 0.160 12 51688810 missense variant A/G snv
SCN8A-related epilepsy with encephalopathy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 15 2012 2017
dbSNP: rs876657399
rs876657399
0.925 0.160 12 51768915 missense variant C/G snv
SCN8A-related epilepsy with encephalopathy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 15 2012 2017
dbSNP: rs879255696
rs879255696
1.000 0.160 12 51688790 missense variant T/A;G snv
SCN8A-related epilepsy with encephalopathy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 15 2012 2017
dbSNP: rs879255699
rs879255699
1.000 0.160 12 51705510 missense variant G/C snv
SCN8A-related epilepsy with encephalopathy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 15 2012 2017
dbSNP: rs879255700
rs879255700
1.000 0.160 12 51762669 missense variant T/C snv
SCN8A-related epilepsy with encephalopathy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 15 2012 2017
dbSNP: rs879255703
rs879255703
1.000 0.160 12 51766005 missense variant T/A snv
SCN8A-related epilepsy with encephalopathy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 15 2012 2017
dbSNP: rs879255709
rs879255709
0.925 0.160 12 51806434 missense variant G/A snv
SCN8A-related epilepsy with encephalopathy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 15 2012 2017
dbSNP: rs879255710
rs879255710
1.000 0.160 12 51806887 missense variant C/G snv
SCN8A-related epilepsy with encephalopathy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 15 2012 2017
dbSNP: rs76222829
rs76222829
1.000 0.160 12 51721894 missense variant C/G;T snv 4.4E-06
SCN8A-related epilepsy with encephalopathy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 15 2012 2017
dbSNP: rs863223345
rs863223345
1.000 0.160 12 51789350 missense variant G/A snv
SCN8A-related epilepsy with encephalopathy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 15 2012 2017
dbSNP: rs796053228
rs796053228
0.882 0.160 12 51807100 missense variant C/G;T snv
SCN8A-related epilepsy with encephalopathy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 3 2014 2015
dbSNP: rs797045013
rs797045013
0.925 0.160 12 51751523 missense variant C/T snv
SCN8A-related epilepsy with encephalopathy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2013 2014
dbSNP: rs879255695
rs879255695
1.000 0.160 12 51688786 missense variant A/G snv
SCN8A-related epilepsy with encephalopathy
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2015 2015