Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3212335
rs3212335
Entrez Id: 2562;112268151
Gene Symbol: GABRB3;LOC112268151
GABRB3;LOC112268151
CUI: C0023980
Disease:
Longevity 		0.800 GeneticVariation GWASDB Joint influence of small-effect genetic variants on human longevity. 20834067 2010
dbSNP: rs886037938
rs886037938
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		T 0.800 CausalMutation CLINVAR
dbSNP: rs886037939
rs886037939
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		A 0.800 CausalMutation CLINVAR
dbSNP: rs886037940
rs886037940
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		T 0.800 CausalMutation CLINVAR
dbSNP: rs886037941
rs886037941
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		T 0.800 CausalMutation CLINVAR
dbSNP: rs11161335
rs11161335
Entrez Id: 2562;112268151
Gene Symbol: GABRB3;LOC112268151
GABRB3;LOC112268151
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1432007
rs1432007
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0596887
Disease:
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs1057519201
rs1057519201
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C1838604
Disease:
EPILEPSY, CHILDHOOD ABSENCE, 1 		C 0.700 CausalMutation CLINVAR Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. 28053010 2017
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: rs12440086
rs12440086
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. 28892062 2017
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 GeneticVariation CLINVAR A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR GABAA receptor subunit gene polymorphisms predict symptom-based and developmental deficits in Chinese Han children and adolescents with autistic spectrum disorders. 28607477 2017
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 GeneticVariation CLINVAR Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. 28053010 2017
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. 28053010 2017
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR GABAA receptor subunit gene polymorphisms predict symptom-based and developmental deficits in Chinese Han children and adolescents with autistic spectrum disorders. 28607477 2017
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. 28053010 2017
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 GeneticVariation CLINVAR GABAA receptor subunit gene polymorphisms predict symptom-based and developmental deficits in Chinese Han children and adolescents with autistic spectrum disorders. 28607477 2017
dbSNP: rs797045045
rs797045045
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C1838604
Disease:
EPILEPSY, CHILDHOOD ABSENCE, 1 		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 		T 0.700 CausalMutation CLINVAR A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy. 26645412 2016
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function. 26950270 2016
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function. 26950270 2016
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy. 26645412 2016