Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516094
rs1057516094
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057516099
rs1057516099
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057518759
rs1057518759
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 GeneticVariation CLINVAR

dbSNP: rs1057518795
rs1057518795
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 GeneticVariation CLINVAR

dbSNP: rs1057518816
rs1057518816
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 GeneticVariation CLINVAR

dbSNP: rs1057518928
rs1057518928
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057518985
rs1057518985
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 GeneticVariation CLINVAR

dbSNP: rs1057519000
rs1057519000
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 GeneticVariation CLINVAR

dbSNP: rs1057519452
rs1057519452
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 CausalMutation CLINVAR

dbSNP: rs1057519524
rs1057519524
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057519526
rs1057519526
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057519527
rs1057519527
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057519528
rs1057519528
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057519529
rs1057519529
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057519532
rs1057519532
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057519535
rs1057519535
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057519536
rs1057519536
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057519537
rs1057519537
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057519538
rs1057519538
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057519539
rs1057519539
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057519540
rs1057519540
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057519542
rs1057519542
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057519545
rs1057519545
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057519547
rs1057519547
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs1057519548
rs1057519548
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015