Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7587026
rs7587026
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4749367
Disease:
Mesial temporal lobe epilepsy with hippocampal sclerosis
A 0.810 GeneticVariation GWASCAT Meta-analysis revealed a genome-wide significant association for mesial temporal lobe epilepsy with hippocampal sclerosis with febrile seizures at the sodium channel gene cluster on chromosome 2q24.3 [rs7587026, within an intron of the SCN1A gene, P = 3.36 × 10(-9), odds ratio (A) = 1.42, 95% confidence interval: 1.26-1.59]. 24014518 2013
dbSNP: rs7587026
rs7587026
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4749367
Disease:
Mesial temporal lobe epilepsy with hippocampal sclerosis
A 0.810 GeneticVariation GWASDB Meta-analysis revealed a genome-wide significant association for mesial temporal lobe epilepsy with hippocampal sclerosis with febrile seizures at the sodium channel gene cluster on chromosome 2q24.3 [rs7587026, within an intron of the SCN1A gene, P = 3.36 × 10(-9), odds ratio (A) = 1.42, 95% confidence interval: 1.26-1.59]. 24014518 2013
dbSNP: rs7587026
rs7587026
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4749367
Disease:
Mesial temporal lobe epilepsy with hippocampal sclerosis
0.810 GeneticVariation BEFREE Meta-analysis revealed a genome-wide significant association for mesial temporal lobe epilepsy with hippocampal sclerosis with febrile seizures at the sodium channel gene cluster on chromosome 2q24.3 [rs7587026, within an intron of the SCN1A gene, P = 3.36 × 10(-9), odds ratio (A) = 1.42, 95% confidence interval: 1.26-1.59]. 24014518 2013
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
0.800 GeneticVariation UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
dbSNP: rs121917918
rs121917918
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
0.800 GeneticVariation UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
dbSNP: rs121917921
rs121917921
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
0.800 GeneticVariation UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
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
0.800 GeneticVariation UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
dbSNP: rs121917923
rs121917923
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
0.800 GeneticVariation UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
dbSNP: rs121917927
rs121917927
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
0.800 GeneticVariation UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
dbSNP: rs121917929
rs121917929
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
0.800 GeneticVariation UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
dbSNP: rs121917935
rs121917935
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
0.800 GeneticVariation UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
dbSNP: rs121917937
rs121917937
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
0.800 GeneticVariation UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
dbSNP: rs121917938
rs121917938
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
0.800 GeneticVariation UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
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
0.800 GeneticVariation UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
dbSNP: rs121917959
rs121917959
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
0.800 GeneticVariation UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
dbSNP: rs121917960
rs121917960
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
0.800 GeneticVariation UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
dbSNP: rs121917964
rs121917964
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
0.800 GeneticVariation UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
dbSNP: rs121917965
rs121917965
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
0.800 GeneticVariation UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
dbSNP: rs121917971
rs121917971
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
0.800 GeneticVariation UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
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
0.800 GeneticVariation UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
dbSNP: rs121917980
rs121917980
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
0.800 GeneticVariation UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
dbSNP: rs121917984
rs121917984
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
0.800 GeneticVariation UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
dbSNP: rs121917985
rs121917985
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
0.800 GeneticVariation UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
dbSNP: rs121917986
rs121917986
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
0.800 GeneticVariation UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
dbSNP: rs121917990
rs121917990
Entrez Id: 6323;101929680
Gene Symbol: SCN1A;SCN1A-AS1
SCN1A;SCN1A-AS1
CUI: C4551549
Disease:
Early Infantile Epileptic Encephalopathy 6
0.800 GeneticVariation UNIPROT A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017