Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519201
rs1057519201
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C2677087
Disease:
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 		C 0.700 CausalMutation CLINVAR Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. 28053010 2017