Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs10506302
rs10506302
SCN8A
1.000 0.040 12 51675683 intron variant C/T snv 5.7E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2010 2010
dbSNP: rs12581041
rs12581041
SCN8A
1.000 0.040 12 51774913 intron variant G/A;C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2010 2010
dbSNP: rs1601012
rs1601012
SCN8A
1.000 0.040 12 51685722 intron variant A/C snv 0.70
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2010 2010
dbSNP: rs1905248
rs1905248
SCN8A
1.000 0.080 12 51613219 intron variant A/G snv 0.62
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.700 1.000 1 2007 2007
dbSNP: rs879255652
rs879255652
SCN8A
0.807 0.120 12 51790425 stop gained G/A;T snv
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
SEIZURES, BENIGN FAMILIAL INFANTILE, 5 		0.800 1.000 2 2016 2016
dbSNP: rs879255652
rs879255652
SCN8A
0.807 0.120 12 51790425 stop gained G/A;T snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs879255652
rs879255652
SCN8A
0.807 0.120 12 51790425 stop gained G/A;T snv
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs879255652
rs879255652
SCN8A
0.807 0.120 12 51790425 stop gained G/A;T snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 1.000 1 2019 2019
dbSNP: rs879255652
rs879255652
SCN8A
0.807 0.120 12 51790425 stop gained G/A;T snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs879255652
rs879255652
SCN8A
0.807 0.120 12 51790425 stop gained G/A;T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 1.000 1 2019 2019
dbSNP: rs879255652
rs879255652
SCN8A
0.807 0.120 12 51790425 stop gained G/A;T snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2019 2019
dbSNP: rs879255707
rs879255707
SCN8A
1.000 0.160 12 51806348 stop gained T/A;G snv
CUI: C3281191
Disease: SCN8A-related epilepsy with encephalopathy
SCN8A-related epilepsy with encephalopathy 		0.700 1.000 1 2015 2015
dbSNP: rs1490133991
rs1490133991
SCN8A
1.000 12 51688761 stop gained T/A snv 8.0E-06
CUI: C3280415
Disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA 		0.700 0
dbSNP: rs796053216
rs796053216
SCN8A
0.851 0.160 12 51790401 stop gained G/A;T snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 0
dbSNP: rs796053216
rs796053216
SCN8A
0.851 0.160 12 51790401 stop gained G/A;T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs796053216
rs796053216
SCN8A
0.851 0.160 12 51790401 stop gained G/A;T snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 0
dbSNP: rs796053216
rs796053216
SCN8A
0.851 0.160 12 51790401 stop gained G/A;T snv
CUI: C3281191
Disease: SCN8A-related epilepsy with encephalopathy
SCN8A-related epilepsy with encephalopathy 		0.700 0
dbSNP: rs878853250
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv
CUI: C1849089
Disease: Broad forehead
Broad forehead 		0.700 0
dbSNP: rs878853250
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.700 0
dbSNP: rs878853250
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
dbSNP: rs878853250
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv
CUI: C0700292
Disease: Hypoxemia
Hypoxemia 		0.700 0
dbSNP: rs878853250
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv
CUI: C4082299
Disease: Bulbar palsy
Bulbar palsy 		0.700 0
dbSNP: rs878853250
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv
CUI: C0234376
Disease: Action Tremor
Action Tremor 		0.700 0
dbSNP: rs878853250
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv
CUI: C1849683
Disease: No social interaction
No social interaction 		0.700 0
dbSNP: rs878853250
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		0.700 0