Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514737
rs397514737
GABRG2
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes. 25726841

2015
dbSNP: rs397514737
rs397514737
GABRG2
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure. 25730860

2015
dbSNP: rs397514737
rs397514737
GABRG2
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 CausalMutation CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013