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: rs1057517958
rs1057517958
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165991711 missense variant G/A snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.700 0
dbSNP: rs1057518162
rs1057518162
SCN9A ; SCN1A-AS1
0.925 0.120 2 166280559 stop gained C/T snv
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		0.700 0
dbSNP: rs1057518162
rs1057518162
SCN9A ; SCN1A-AS1
0.925 0.120 2 166280559 stop gained C/T snv
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		0.700 0
dbSNP: rs1057518671
rs1057518671
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165991924 missense variant A/G;T snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.700 0
dbSNP: rs1057518900
rs1057518900
SCN9A ; SCN1A-AS1
0.925 0.120 2 166284785 stop gained G/A snv 7.0E-06
CUI: C0344307
Disease: Absence of pain sensation
Absence of pain sensation 		0.700 0
dbSNP: rs1057519529
rs1057519529
SCN1A ; SCN1A-AS1
1.000 0.040 2 166043864 missense variant C/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1057519531
rs1057519531
SCN1A ; SCN1A-AS1
1.000 0.040 2 166052945 splice acceptor variant T/C snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.700 0
dbSNP: rs1057519534
rs1057519534
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 166013758 frameshift variant -/A delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.700 0
dbSNP: rs1057521079
rs1057521079
SCN1A ; SCN1A-AS1 ; LOC102724058
0.925 0.080 2 165992362 missense variant A/T snv
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		0.700 0
dbSNP: rs1057521079
rs1057521079
SCN1A ; SCN1A-AS1 ; LOC102724058
0.925 0.080 2 165992362 missense variant A/T snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.700 0
dbSNP: rs1057521080
rs1057521080
SCN1A ; SCN1A-AS1
1.000 0.040 2 166037903 missense variant G/A snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.700 0
dbSNP: rs1057521537
rs1057521537
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 166002695 missense variant C/A;G snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 0
dbSNP: rs1060502047
rs1060502047
SCN9A ; SCN1A-AS1
0.925 0.120 2 166198763 missense variant T/G snv
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		0.700 0
dbSNP: rs1060502047
rs1060502047
SCN9A ; SCN1A-AS1
0.925 0.120 2 166198763 missense variant T/G snv
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		0.700 0
dbSNP: rs1060502182
rs1060502182
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 166013817 frameshift variant -/A delins
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 0
dbSNP: rs1060502183
rs1060502183
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 2 166002520 frameshift variant T/- delins
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 0
dbSNP: rs1060502185
rs1060502185
SCN1A ; SCN1A-AS1
1.000 0.040 2 166058565 splice region variant G/C;T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 0
dbSNP: rs1060502187
rs1060502187
SCN1A ; SCN1A-AS1
1.000 0.040 2 166058641 frameshift variant G/- delins
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 0
dbSNP: rs1060502188
rs1060502188
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 166012166 stop gained A/C snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 0
dbSNP: rs1060502190
rs1060502190
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 166002489 missense variant G/C snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 0
dbSNP: rs1131691465
rs1131691465
SCN1A ; SCN1A-AS1
1.000 0.040 2 166047710 missense variant T/G snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.700 0
dbSNP: rs1131691675
rs1131691675
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165992296 missense variant A/G snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.700 0
dbSNP: rs1131691773
rs1131691773
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.080 2 165991675 missense variant A/G snv
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		0.700 0
dbSNP: rs1131691774
rs1131691774
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165992275 missense variant A/G snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.700 0
dbSNP: rs1131691775
rs1131691775
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 166002623 stop lost T/G snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.700 0