Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057520498
rs1057520498
GABRG2
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060501888
rs1060501888
GABRG2
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060501889
rs1060501889
GABRG2
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		T 0.700 GeneticVariation CLINVAR Novel GABRG2 mutations cause familial febrile seizures. 27066572

2015
dbSNP: rs1060501889
rs1060501889
GABRG2
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		T 0.700 GeneticVariation CLINVAR Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype. 23720301

2013
dbSNP: rs1060501889
rs1060501889
GABRG2
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		T 0.700 GeneticVariation CLINVAR SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus. 18566737

2008
dbSNP: rs121909672
rs121909672
GABRG2
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121909673
rs121909673
GABRG2
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		A 0.700 GeneticVariation CLINVAR Cortical alterations in a model for absence epilepsy and febrile seizures: in vivo findings in mice carrying a human GABA(A)R gamma2 subunit mutation. 25731747

2015
dbSNP: rs121909673
rs121909673
GABRG2
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		A 0.700 GeneticVariation CLINVAR The GABAA receptor γ2 subunit (R43Q) mutation in febrile seizures. 24630281

2014
dbSNP: rs121909673
rs121909673
GABRG2
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		A 0.700 GeneticVariation CLINVAR GABA(A) receptor gamma 2 subunit mutations linked to human epileptic syndromes differentially affect phasic and tonic inhibition. 18094250

2007
dbSNP: rs121909673
rs121909673
GABRG2
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		A 0.700 GeneticVariation CLINVAR Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies. 16510738

2006
dbSNP: rs121909673
rs121909673
GABRG2
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		A 0.700 GeneticVariation CLINVAR The epilepsy mutation, gamma2(R43Q) disrupts a highly conserved inter-subunit contact site, perturbing the biogenesis of GABAA receptors. 15866052

2005
dbSNP: rs121909673
rs121909673
GABRG2
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		A 0.700 GeneticVariation CLINVAR The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum. 15470132

2004
dbSNP: rs121909673
rs121909673
GABRG2
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		A 0.700 GeneticVariation CLINVAR Two different mechanisms of disinhibition produced by GABAA receptor mutations linked to epilepsy in humans. 12097483

2002
dbSNP: rs121909673
rs121909673
GABRG2
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		A 0.700 GeneticVariation CLINVAR Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. 11326275

2001
dbSNP: rs121909673
rs121909673
GABRG2
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121909674
rs121909674
GABRG2
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1469287853
rs1469287853
GABRG2
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1554098222
rs1554098222
GABRG2
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1554101185
rs1554101185
GABRG2
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1561645243
rs1561645243
GABRG2
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		G 0.700 CausalMutation CLINVAR

dbSNP: rs267606837
rs267606837
GABRG2
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		G 0.700 CausalMutation CLINVAR

dbSNP: rs796052505
rs796052505
GABRG2
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		A 0.700 CausalMutation CLINVAR

dbSNP: rs878854144
rs878854144
GABRG2
CUI: C1969810
Disease: FEBRILE CONVULSIONS, FAMILIAL, 8
FEBRILE CONVULSIONS, FAMILIAL, 8 		C 0.700 CausalMutation CLINVAR