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 		T 0.800 CausalMutation CLINVAR
dbSNP: rs886037939
rs886037939
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		A 0.800 CausalMutation CLINVAR
dbSNP: rs886037940
rs886037940
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		T 0.800 CausalMutation CLINVAR
dbSNP: rs886037941
rs886037941
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1057519549
rs1057519549
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.700 GeneticVariation UNIPROT
dbSNP: rs1057519549
rs1057519549
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0543888
Disease:
Epileptic encephalopathy 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519550
rs1057519550
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0543888
Disease:
Epileptic encephalopathy 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519550
rs1057519550
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.700 GeneticVariation UNIPROT
dbSNP: rs1064794797
rs1064794797
Entrez Id: 2562;112268151
Gene Symbol: GABRB3;LOC112268151
GABRB3;LOC112268151
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1064796514
rs1064796514
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555401942
rs1555401942
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C2677087
Disease:
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1567106381
rs1567106381
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C1838604
Disease:
EPILEPSY, CHILDHOOD ABSENCE, 1 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1567106381
rs1567106381
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C2677087
Disease:
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs25409
rs25409
Entrez Id: 2562;112268151
Gene Symbol: GABRB3;LOC112268151
GABRB3;LOC112268151
CUI: C2677087
Disease:
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 		A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs71651682
rs71651682
Entrez Id: 2562;112268151
Gene Symbol: GABRB3;LOC112268151
GABRB3;LOC112268151
CUI: C2677087
Disease:
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 		0.700 GeneticVariation UNIPROT
dbSNP: rs4906902
rs4906902
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4281785
Disease:
Childhood Absence Epilepsy 		0.020 GeneticVariation BEFREE Our study failed to replicate an association of the common GABRB3 exon 1a promoter SNP rs4906902 with CAE. 17215107 2007
dbSNP: rs4906902
rs4906902
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0014553
Disease:
Absence Epilepsy 		0.020 GeneticVariation BEFREE Our study failed to replicate an association of the common GABRB3 exon 1a promoter SNP rs4906902 with CAE. 17215107 2007
dbSNP: rs4906902
rs4906902
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0270853
Disease:
Juvenile Myoclonic Epilepsy 		0.010 GeneticVariation BEFREE Seven hundred and eighty unrelated German IGE patients (250 CAE, 123 juvenile absence epilepsy, 303 juvenile myoclonic epilepsy (JME), 104 epilepsy with generalized tonic-clonic seizures on awakening) and 559 healthy population controls were genotyped for the single nucleotide polymorphism (SNP) rs4906902. 17215107 2007
dbSNP: rs4906902
rs4906902
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0014544
Disease:
Epilepsy 		0.010 GeneticVariation BEFREE Seven hundred and eighty unrelated German IGE patients (250 CAE, 123 juvenile absence epilepsy, 303 juvenile myoclonic epilepsy (JME), 104 epilepsy with generalized tonic-clonic seizures on awakening) and 559 healthy population controls were genotyped for the single nucleotide polymorphism (SNP) rs4906902. 17215107 2007
dbSNP: rs4906902
rs4906902
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0494475
Disease:
Tonic - clonic seizures 		0.010 GeneticVariation BEFREE Seven hundred and eighty unrelated German IGE patients (250 CAE, 123 juvenile absence epilepsy, 303 juvenile myoclonic epilepsy (JME), 104 epilepsy with generalized tonic-clonic seizures on awakening) and 559 healthy population controls were genotyped for the single nucleotide polymorphism (SNP) rs4906902. 17215107 2007
dbSNP: rs4906902
rs4906902
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0270850
Disease:
Idiopathic generalized epilepsy 		0.010 GeneticVariation BEFREE The present population-based association study tested whether the C-allele of rs4906902 confers susceptibility to CAE or other common syndromes of idiopathic generalized epilepsy (IGE) in a German sample. 17215107 2007
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. 18514161 2008
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. 18514161 2008
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 GeneticVariation CLINVAR Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. 18514161 2008
dbSNP: rs25409
rs25409
Entrez Id: 2562;112268151
Gene Symbol: GABRB3;LOC112268151
GABRB3;LOC112268151
CUI: C0014553
Disease:
Absence Epilepsy 		0.020 GeneticVariation BEFREE One heterozygous missense mutation (P11S) in exon 1a segregated with four CAE-affected persons in one multiplex, two-generation Mexican family. 18514161 2008