Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886037938
rs886037938
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
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: rs886037939
rs886037939
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
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: rs886037940
rs886037940
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
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: rs886037941
rs886037941
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
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: rs886037938
rs886037938
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 GeneticVariation UNIPROT De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
dbSNP: rs886037938
rs886037938
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
dbSNP: rs886037938
rs886037938
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 GeneticVariation UNIPROT Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function. 26950270 2016
dbSNP: rs886037939
rs886037939
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 GeneticVariation UNIPROT Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function. 26950270 2016
dbSNP: rs886037939
rs886037939
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 GeneticVariation UNIPROT De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
dbSNP: rs886037939
rs886037939
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
dbSNP: rs886037940
rs886037940
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
dbSNP: rs886037940
rs886037940
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 GeneticVariation UNIPROT Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function. 26950270 2016
dbSNP: rs886037940
rs886037940
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 GeneticVariation UNIPROT De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
dbSNP: rs886037941
rs886037941
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
dbSNP: rs886037941
rs886037941
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 GeneticVariation UNIPROT De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
dbSNP: rs886037941
rs886037941
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 GeneticVariation UNIPROT Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function. 26950270 2016
dbSNP: rs886037938
rs886037938
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 GeneticVariation UNIPROT De novo mutations in moderate or severe intellectual disability. 25356899 2014
dbSNP: rs886037939
rs886037939
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 GeneticVariation UNIPROT De novo mutations in moderate or severe intellectual disability. 25356899 2014
dbSNP: rs886037940
rs886037940
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 GeneticVariation UNIPROT De novo mutations in moderate or severe intellectual disability. 25356899 2014
dbSNP: rs886037941
rs886037941
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 GeneticVariation UNIPROT De novo mutations in moderate or severe intellectual disability. 25356899 2014
dbSNP: rs886037938
rs886037938
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 GeneticVariation UNIPROT De novo mutations in epileptic encephalopathies. 23934111 2013
dbSNP: rs886037939
rs886037939
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 GeneticVariation UNIPROT De novo mutations in epileptic encephalopathies. 23934111 2013
dbSNP: rs886037940
rs886037940
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 GeneticVariation UNIPROT De novo mutations in epileptic encephalopathies. 23934111 2013
dbSNP: rs886037941
rs886037941
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 GeneticVariation UNIPROT De novo mutations in epileptic encephalopathies. 23934111 2013
dbSNP: rs3212335
rs3212335
Entrez Id: 2562;112268151
Gene Symbol: GABRB3;LOC112268151
GABRB3;LOC112268151
CUI: C0023980
Disease:
Longevity
0.800 GeneticVariation GWASCAT Joint influence of small-effect genetic variants on human longevity. 20834067 2010