rs3212335
GABRB3;LOC112268151
Longevity
0.800
GeneticVariation
GWASDB
Joint influence of small-effect genetic variants on human longevity.
20834067
2010
rs886037938
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
T
0.800
CausalMutation
CLINVAR
rs886037939
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
A
0.800
CausalMutation
CLINVAR
rs886037940
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
T
0.800
CausalMutation
CLINVAR
rs886037941
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
T
0.800
CausalMutation
CLINVAR
rs11161335
GABRB3;LOC112268151
Body mass index
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs1432007
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
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
rs1057519201
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
EPILEPSY, CHILDHOOD ABSENCE, 1
C
0.700
CausalMutation
CLINVAR
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
28053010
2017
rs1057519201
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
C
0.700
CausalMutation
CLINVAR
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
28053010
2017
rs12440086
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
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
rs1555401440
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
Movement Disorders
A
0.700
GeneticVariation
CLINVAR
A mutation in GABRB3 associated with Dravet syndrome.
28544625
2017
rs1555401440
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
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
rs1555401440
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
Muscle hypotonia
A
0.700
GeneticVariation
CLINVAR
A mutation in GABRB3 associated with Dravet syndrome.
28544625
2017
rs1555401440
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
Movement Disorders
A
0.700
GeneticVariation
CLINVAR
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
28053010
2017
rs1555401440
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
Dysmorphic features
A
0.700
GeneticVariation
CLINVAR
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
28053010
2017
rs1555401440
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
Dysmorphic features
A
0.700
GeneticVariation
CLINVAR
A mutation in GABRB3 associated with Dravet syndrome.
28544625
2017
rs1555401440
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
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
rs1555401440
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
Muscle hypotonia
A
0.700
GeneticVariation
CLINVAR
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
28053010
2017
rs1555401440
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
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
rs797045045
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
EPILEPSY, CHILDHOOD ABSENCE, 1
T
0.700
CausalMutation
CLINVAR
A mutation in GABRB3 associated with Dravet syndrome.
28544625
2017
rs797045045
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
T
0.700
CausalMutation
CLINVAR
A mutation in GABRB3 associated with Dravet syndrome.
28544625
2017
rs1555401440
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
Muscle hypotonia
A
0.700
GeneticVariation
CLINVAR
GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.
26645412
2016
rs1555401440
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
Dysmorphic features
A
0.700
GeneticVariation
CLINVAR
Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.
26950270
2016
rs1555401440
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
Muscle hypotonia
A
0.700
GeneticVariation
CLINVAR
Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.
26950270
2016
rs1555401440
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
Dysmorphic features
A
0.700
GeneticVariation
CLINVAR
GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.
26645412
2016