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
rs1057519549
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.700
GeneticVariation
UNIPROT
rs1057519549
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
Epileptic encephalopathy
A
0.700
GeneticVariation
CLINVAR
rs1057519550
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
Epileptic encephalopathy
G
0.700
GeneticVariation
CLINVAR
rs1057519550
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.700
GeneticVariation
UNIPROT
rs1064794797
GABRB3;LOC112268151
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
C
0.700
GeneticVariation
CLINVAR
rs1064796514
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
A
0.700
GeneticVariation
CLINVAR
rs11161335
GABRB3;LOC112268151
Body mass index
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs11631129
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
Serum albumin measurement
0.700
GeneticVariation
GWASDB
A genome-wide assessment of variability in human serum metabolism.
23281178
2013
rs11636988
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
Bipolar I disorder
0.010
GeneticVariation
BEFREE
Four haplotypes were significantly associated with BDI (TA and AG for rs3815762 and rs4868029 in GABRP, GG for rs11636988 and rs8024256 in GABRB3 and GAGG for rs2197414, rs4921195, rs13188991, and rs11956731 in GABRA6, with p values of 0.0038, 0.044, 0.0176, and 0.0267, respectively, on 10,000 permutations).
29135068
2018
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
rs12910337
GABRB3;LOC112268151
Serum albumin measurement
0.700
GeneticVariation
GWASDB
A genome-wide assessment of variability in human serum metabolism.
23281178
2013
rs1426217
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
Autistic Disorder
0.010
GeneticVariation
BEFREE
Further analysis indicated that no associations were found between GABRB3 SNPs and autism on rs2081648 [OR = 0.84 (95% CI) = 0.41-1.72, I<sup>2</sup> = 89.2%] and rs1426217 [OR = 1.13 (95% CI) = 0.64-2.0, I<sup>2</sup> = 83%].
29725984
2018
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
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
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
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
Dysmorphic features
A
0.700
GeneticVariation
CLINVAR
De novo mutations in epileptic encephalopathies.
23934111
2013
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
rs1555401440
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
Muscle hypotonia
A
0.700
GeneticVariation
CLINVAR
Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders.
24999380
2014
rs1555401440
×
Entrez Id:
2562
Gene Symbol:
GABRB3
GABRB3
Dysmorphic features
A
0.700
GeneticVariation
CLINVAR
Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders.
24999380
2014