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
dbSNP: rs797045045
rs797045045
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C2677087
Disease:
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 		T 0.700 CausalMutation CLINVAR A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
dbSNP: rs797045045
rs797045045
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C2677087
Disease:
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 		G 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs1555401942
rs1555401942
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C2677087
Disease:
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1567106381
rs1567106381
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C2677087
Disease:
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs25409
rs25409
Entrez Id: 2562;112268151
Gene Symbol: GABRB3;LOC112268151
GABRB3;LOC112268151
CUI: C2677087
Disease:
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 		A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs71651682
rs71651682
Entrez Id: 2562;112268151
Gene Symbol: GABRB3;LOC112268151
GABRB3;LOC112268151
CUI: C2677087
Disease:
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 		0.700 GeneticVariation UNIPROT