rs211037, GABRG2

N. diseases: 14
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.060 GeneticVariation BEFREE A significant association was found with the TT homozygous genotype and T allele for both febrile seizures and epilepsy for the C588T locus, while GABRG2 G>A 3145 showed no significant association with any type of seizure. 29379546 2018
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.060 GeneticVariation BEFREE The present study was designed to explore whether the GABARG2 C588 T (rs211037) genetic variant predicts susceptibility to epilepsy and pharmacoresistance among Egyptian children with Idiopathic Generalized Epilepsy (IGE). 29894917 2018
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.060 GeneticVariation BEFREE Rs1912960 has been associated with ASD and rs211037 with epilepsy. 26239769 2015
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.060 GeneticVariation BEFREE We could substantiate that among the GABA(A) receptor subunit gene cluster polymorphisms, the GABRG2, rs211037 predisposes susceptibility to epilepsy, irrespective of its phenotype, but not to AED resistance. 24061200 2013
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.060 GeneticVariation BEFREE Eight studies comprising 1871 epilepsy patients and 1387 controls, which evaluated association of the GABRG2 rs211037 polymorphism with susceptibility to epilepsy, were included in this meta-analysis. 23140995 2013
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.060 GeneticVariation BEFREE However GABRG2 588C>T polymorphism was not found to be associated either with epilepsy susceptibility or with drug resistance. 20356767 2010