Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312824
rs869312824
GNB1
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
dbSNP: rs869312824
rs869312824
GNB1
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 GeneticVariation CLINVAR