Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519201
rs1057519201
GABRB3
C 0.700 CausalMutation CLINVAR Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. 28053010

2017
dbSNP: rs797045045
rs797045045
GABRB3
T 0.700 CausalMutation CLINVAR A mutation in GABRB3 associated with Dravet syndrome. 28544625

2017
dbSNP: rs797045045
rs797045045
GABRB3
G 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs1555401942
rs1555401942
GABRB3
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1567106381
rs1567106381
GABRB3
G 0.700 GeneticVariation CLINVAR

dbSNP: rs25409
rs25409
GABRB3 ; LOC112268151
A 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs71651682
rs71651682
GABRB3 ; LOC112268151
0.700 GeneticVariation UNIPROT