Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519530
rs1057519530
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
G 0.800 GeneticVariation CLINVAR
dbSNP: rs1057519533
rs1057519533
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
A 0.800 GeneticVariation CLINVAR
dbSNP: rs121917915
rs121917915
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
A 0.800 GeneticVariation CLINVAR
dbSNP: rs121917922
rs121917922
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
A 0.800 GeneticVariation CLINVAR
dbSNP: rs121917929
rs121917929
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
A 0.800 CausalMutation CLINVAR
dbSNP: rs121917930
rs121917930
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C1858673
Disease:
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
G 0.800 CausalMutation CLINVAR
dbSNP: rs121917935
rs121917935
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
T 0.800 CausalMutation CLINVAR
dbSNP: rs121917945
rs121917945
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
A 0.800 GeneticVariation CLINVAR
dbSNP: rs121917953
rs121917953
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C1858673
Disease:
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
A 0.800 CausalMutation CLINVAR
dbSNP: rs121917954
rs121917954
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C1858673
Disease:
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
G 0.800 CausalMutation CLINVAR
dbSNP: rs121917955
rs121917955
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C1858673
Disease:
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
C 0.800 CausalMutation CLINVAR
dbSNP: rs121917959
rs121917959
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
A 0.800 GeneticVariation CLINVAR
dbSNP: rs121917964
rs121917964
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
C 0.800 GeneticVariation CLINVAR
dbSNP: rs121917971
rs121917971
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C1858673
Disease:
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
T 0.800 CausalMutation CLINVAR
dbSNP: rs121917976
rs121917976
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
T 0.800 CausalMutation CLINVAR
dbSNP: rs121917984
rs121917984
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
A 0.800 CausalMutation CLINVAR
dbSNP: rs121918622
rs121918622
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C1858673
Disease:
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
T 0.800 CausalMutation CLINVAR
dbSNP: rs121918623
rs121918623
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C1858673
Disease:
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
A 0.800 CausalMutation CLINVAR
dbSNP: rs121918625
rs121918625
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
A 0.800 CausalMutation CLINVAR
dbSNP: rs121918626
rs121918626
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C1858673
Disease:
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
G 0.800 CausalMutation CLINVAR
dbSNP: rs121918627
rs121918627
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C1858673
Disease:
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
G 0.800 CausalMutation CLINVAR
dbSNP: rs121918628
rs121918628
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C1864987
Disease:
Migraine, Familial Hemiplegic, 3
T 0.800 CausalMutation CLINVAR
dbSNP: rs121918629
rs121918629
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
A 0.800 CausalMutation CLINVAR
dbSNP: rs121918630
rs121918630
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
A 0.800 CausalMutation CLINVAR
dbSNP: rs121918632
rs121918632
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C1864987
Disease:
Migraine, Familial Hemiplegic, 3
G 0.800 CausalMutation CLINVAR