rs211037, GABRG2

N. diseases: 14
Disease: Juvenile Myoclonic Epilepsy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Juvenile Myoclonic Epilepsy
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
0.030 GeneticVariation BEFREE The GABRG2 588 C > T polymorphism may decrease the duration of seizures in JME patients. 29785705 2018
Juvenile Myoclonic Epilepsy
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
0.030 GeneticVariation BEFREE These results present no evidence for an association of rs211037 with JME. 23287319 2015
Juvenile Myoclonic Epilepsy
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
0.030 GeneticVariation BEFREE A significant allelic (P=0.0006, odds ratio=1.6, 95% confidence interval=1.22-2.08) and genotypic (P=0.001) association of a synonymous variant in GABRG2, rs211037 (Asn196Asn) was observed with epilepsy irrespective of its phenotype, that is, MTLE-HS or juvenile myoclonic epilepsy. 24061200 2013