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: rs1559101585
rs1559101585
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 2 165991779 frameshift variant -/A ins
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 1 2016 2016
dbSNP: rs779327684
rs779327684
SCN9A ; SCN1A-AS1
0.925 0.120 2 166280590 frameshift variant -/A delins 5.6E-06
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		0.700 1.000 1 2007 2007
dbSNP: rs779327684
rs779327684
SCN9A ; SCN1A-AS1
0.925 0.120 2 166280590 frameshift variant -/A delins 5.6E-06
CUI: C2752089
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		0.700 1.000 1 2007 2007
dbSNP: rs794726820
rs794726820
SCN1A ; SCN1A-AS1
1.000 0.040 2 166041327 frameshift variant -/A ins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.700 1.000 1 2015 2015
dbSNP: rs863225038
rs863225038
SCN1A ; SCN1A-AS1
1.000 0.040 2 166048921 frameshift variant -/A delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.700 1.000 1 2006 2006
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: 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: rs1559140306
rs1559140306
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 2 166009749 frameshift variant -/A delins
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 0
dbSNP: rs794726814
rs794726814
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165991983 frameshift variant -/AATTCCAA delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.700 1.000 1 2015 2015
dbSNP: rs794726819
rs794726819
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165992278 frameshift variant -/ACAT delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.700 1.000 1 2015 2015
dbSNP: rs794726741
rs794726741
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165991922 frameshift variant -/ACCG delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.700 1.000 1 2015 2015
dbSNP: rs794726701
rs794726701
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165992391 stop gained -/ACTTT delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.700 1.000 1 2015 2015
dbSNP: rs794726723
rs794726723
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 166009749 frameshift variant -/AG delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.700 1.000 1 2015 2015
dbSNP: rs1553560740
rs1553560740
SCN1A ; SCN1A-AS1
1.000 0.040 2 166073405 inframe insertion -/ATC delins
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 1.000 2 2009 2015
dbSNP: rs1553552319
rs1553552319
SCN1A ; SCN1A-AS1
1.000 0.040 2 166056429 frameshift variant -/C delins
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 0
dbSNP: rs794726846
rs794726846
SCN1A ; SCN1A-AS1
1.000 0.040 2 166051751 frameshift variant -/CA delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.700 1.000 1 2015 2015
dbSNP: rs794726850
rs794726850
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165994167 frameshift variant -/CA delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.700 1.000 1 2015 2015
dbSNP: rs794726702
rs794726702
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165992024 frameshift variant -/CC ins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.700 1.000 1 2015 2015
dbSNP: rs794726717
rs794726717
SCN1A ; SCN1A-AS1
1.000 0.040 2 166045044 frameshift variant -/G delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.700 1.000 1 2015 2015
dbSNP: rs1559193213
rs1559193213
SCN1A ; SCN1A-AS1 ; LOC102724058
0.807 0.160 2 166036149 frameshift variant -/G delins
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.700 0
dbSNP: rs1559193213
rs1559193213
SCN1A ; SCN1A-AS1 ; LOC102724058
0.807 0.160 2 166036149 frameshift variant -/G delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1559193213
rs1559193213
SCN1A ; SCN1A-AS1 ; LOC102724058
0.807 0.160 2 166036149 frameshift variant -/G delins
CUI: C0017639
Disease: Gliosis
Gliosis 		0.700 0
dbSNP: rs1559193213
rs1559193213
SCN1A ; SCN1A-AS1 ; LOC102724058
0.807 0.160 2 166036149 frameshift variant -/G delins
CUI: C1843392
Disease: Death in childhood
Death in childhood 		0.700 0
dbSNP: rs1559193213
rs1559193213
SCN1A ; SCN1A-AS1 ; LOC102724058
0.807 0.160 2 166036149 frameshift variant -/G delins
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		0.700 0
dbSNP: rs1559193213
rs1559193213
SCN1A ; SCN1A-AS1 ; LOC102724058
0.807 0.160 2 166036149 frameshift variant -/G delins
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		0.700 0