Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777364
rs587777364
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1
CUI: C4013473
Disease:
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 		0.800 GeneticVariation UNIPROT Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy. 21714819 2011
dbSNP: rs121434579
rs121434579
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1
CUI: C4013473
Disease:
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 		0.800 GeneticVariation UNIPROT Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. 11992121 2002
dbSNP: rs121434579
rs121434579
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1
CUI: C4013473
Disease:
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 		A 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs587777364
rs587777364
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1
CUI: C4013473
Disease:
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 		A 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs587777308
rs587777308
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1
CUI: C4013473
Disease:
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 		A 0.700 CausalMutation CLINVAR De novo GABRA1 mutations in Ohtahara and West syndromes. 26918889 2016
dbSNP: rs587777308
rs587777308
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1
CUI: C4013473
Disease:
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 		A 0.700 CausalMutation CLINVAR Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. 27521439 2016
dbSNP: rs886039373
rs886039373
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1
CUI: C4013473
Disease:
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 		A 0.700 CausalMutation CLINVAR Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders. 27353043 2016
dbSNP: rs587777308
rs587777308
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1
CUI: C4013473
Disease:
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 		A 0.700 CausalMutation CLINVAR GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 24623842 2014
dbSNP: rs1561587715
rs1561587715
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1
CUI: C4013473
Disease:
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 		C 0.700 CausalMutation CLINVAR
dbSNP: rs796052492
rs796052492
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1
CUI: C4013473
Disease:
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 		A 0.700 GeneticVariation CLINVAR