Gene: GABRA1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434579
rs121434579
GABRA1
A 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs587777364
rs587777364
GABRA1
A 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs587777308
rs587777308
GABRA1
A 0.700 CausalMutation CLINVAR Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. 27521439

2016
dbSNP: rs587777308
rs587777308
GABRA1
A 0.700 CausalMutation CLINVAR De novo GABRA1 mutations in Ohtahara and West syndromes. 26918889

2016
dbSNP: rs886039373
rs886039373
GABRA1
A 0.700 CausalMutation CLINVAR Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders. 27353043

2016
dbSNP: rs587777308
rs587777308
GABRA1
A 0.700 CausalMutation CLINVAR GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 24623842

2014
dbSNP: rs1561587715
rs1561587715
GABRA1
C 0.700 CausalMutation CLINVAR

dbSNP: rs796052492
rs796052492
GABRA1
A 0.700 GeneticVariation CLINVAR