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: rs1064793923
rs1064793923
SCN8A
12 51699581 missense variant A/C;G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2016 2016
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: rs1319484809
rs1319484809
SCN8A
1.000 0.040 12 51807224 missense variant G/A snv 7.0E-06
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 1.000 1 2018 2018
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: rs202151337
rs202151337
SCN8A
0.925 0.160 12 51806788 missense variant A/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.010 1.000 1 2015 2015
dbSNP: rs202151337
rs202151337
SCN8A
0.925 0.160 12 51806788 missense variant A/G snv
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.010 1.000 1 2015 2015
dbSNP: rs587776703
rs587776703
SCN8A
0.925 0.040 12 51806642 frameshift variant CT/- del 7.0E-06
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.010 1.000 1 2018 2018
dbSNP: rs587776703
rs587776703
SCN8A
0.925 0.040 12 51806642 frameshift variant CT/- del 7.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2018 2018
dbSNP: rs587776703
rs587776703
SCN8A
0.925 0.040 12 51806642 frameshift variant CT/- del 7.0E-06
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 1.000 1 2018 2018
dbSNP: rs587780455
rs587780455
SCN8A
0.827 0.160 12 51807116 missense variant A/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 1.000 1 2016 2016
dbSNP: rs587780455
rs587780455
SCN8A
0.827 0.160 12 51807116 missense variant A/G snv
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.010 1.000 1 2016 2016
dbSNP: rs587780455
rs587780455
SCN8A
0.827 0.160 12 51807116 missense variant A/G snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 1.000 1 2016 2016
dbSNP: rs587780455
rs587780455
SCN8A
0.827 0.160 12 51807116 missense variant A/G snv
CUI: C4317109
Disease: Epileptic Seizures
Epileptic Seizures 		0.010 1.000 1 2016 2016
dbSNP: rs587780586
rs587780586
SCN8A
0.882 0.160 12 51765675 missense variant G/A snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 1.000 1 2020 2020
dbSNP: rs672601319
rs672601319
SCN8A
0.925 0.160 12 51688810 missense variant A/G snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 1.000 1 2014 2014
dbSNP: rs796053229
rs796053229
SCN8A
0.882 0.160 12 51807101 missense variant G/A;T snv 4.0E-06
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 1.000 1 2018 2018
dbSNP: rs869312966
rs869312966
SCN8A
0.827 0.120 12 51806345 missense variant G/T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 1.000 1 2019 2019
dbSNP: rs869312966
rs869312966
SCN8A
0.827 0.120 12 51806345 missense variant G/T snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 1.000 1 2019 2019
dbSNP: rs869312966
rs869312966
SCN8A
0.827 0.120 12 51806345 missense variant G/T snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs869312966
rs869312966
SCN8A
0.827 0.120 12 51806345 missense variant G/T snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs869312966
rs869312966
SCN8A
0.827 0.120 12 51806345 missense variant G/T snv
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs869312966
rs869312966
SCN8A
0.827 0.120 12 51806345 missense variant G/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: 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