Variant Gene Disease 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 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 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 CausalMutation CLINVAR 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 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 CausalMutation CLINVAR De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 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: rs886037940
rs886037940
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.800 CausalMutation CLINVAR 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 CausalMutation CLINVAR 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 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 De novo mutations in epileptic encephalopathies. 23934111 2013
dbSNP: rs71651682
rs71651682
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C2677087
Disease:
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
0.800 GeneticVariation UNIPROT GABRB3 mutation, G32R, associated with childhood absence epilepsy alters α1β3γ2L γ-aminobutyric acid type A (GABAA) receptor expression and channel gating. 22303015 2012
dbSNP: rs71651682
rs71651682
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C2677087
Disease:
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
0.800 GeneticVariation UNIPROT Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. 18514161 2008
dbSNP: rs71651682
rs71651682
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C2677087
Disease:
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
0.800 SusceptibilityMutation CLINVAR Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. 18514161 2008
dbSNP: rs1057519549
rs1057519549
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.700 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs1057519550
rs1057519550
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.700 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs797045045
rs797045045
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C2677087
Disease:
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2017
dbSNP: rs1057519549
rs1057519549
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0543888
Disease:
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: rs1057519550
rs1057519550
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0543888
Disease:
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: rs11631129
rs11631129
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C1611184
Disease:
Calcification of coronary artery
0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs12910337
rs12910337
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C1611184
Disease:
Calcification of coronary artery
0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs3212332
rs3212332
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C1611184
Disease:
Calcification of coronary artery
0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs3212343
rs3212343
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C1611184
Disease:
Calcification of coronary artery
0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs4906898
rs4906898
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C1611184
Disease:
Calcification of coronary artery
0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs6576604
rs6576604
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C1611184
Disease:
Calcification of coronary artery
0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs6576606
rs6576606
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C1611184
Disease:
Calcification of coronary artery
0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013