Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514738
rs397514738
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy
0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs397514738
rs397514738
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy
0.800 GeneticVariation UNIPROT SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures. 28923014 2017
dbSNP: rs587777721
rs587777721
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy
0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs587777721
rs587777721
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy
0.800 GeneticVariation UNIPROT SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures. 28923014 2017
dbSNP: rs587777722
rs587777722
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy
0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs587777722
rs587777722
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy
0.800 GeneticVariation UNIPROT SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures. 28923014 2017
dbSNP: rs587777723
rs587777723
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy
0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs587777723
rs587777723
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy
0.800 GeneticVariation UNIPROT SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures. 28923014 2017
dbSNP: rs587780454
rs587780454
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy
0.800 GeneticVariation UNIPROT SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures. 28923014 2017
dbSNP: rs587780454
rs587780454
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy
0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs587780455
rs587780455
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy
0.800 GeneticVariation UNIPROT SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures. 28923014 2017
dbSNP: rs587780455
rs587780455
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy
0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs587780586
rs587780586
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy
0.800 GeneticVariation UNIPROT SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures. 28923014 2017
dbSNP: rs587780586
rs587780586
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy
0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs672601319
rs672601319
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy
0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs672601319
rs672601319
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy
0.800 GeneticVariation UNIPROT SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures. 28923014 2017
dbSNP: rs876657399
rs876657399
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy
0.800 GeneticVariation UNIPROT SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures. 28923014 2017
dbSNP: rs876657399
rs876657399
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy
0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs879255696
rs879255696
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy
0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs879255696
rs879255696
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy
0.800 GeneticVariation UNIPROT SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures. 28923014 2017
dbSNP: rs879255697
rs879255697
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy
0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs879255697
rs879255697
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy
0.800 GeneticVariation UNIPROT SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures. 28923014 2017
dbSNP: rs879255698
rs879255698
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy
0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs879255698
rs879255698
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy
0.800 GeneticVariation UNIPROT SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures. 28923014 2017
dbSNP: rs879255699
rs879255699
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy
0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017