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: 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: rs1057519549
rs1057519549
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.700 GeneticVariation UNIPROT
dbSNP: rs1057519549
rs1057519549
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0543888
Disease:
Epileptic encephalopathy 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519550
rs1057519550
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0543888
Disease:
Epileptic encephalopathy 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519550
rs1057519550
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		0.700 GeneticVariation UNIPROT
dbSNP: rs1064794797
rs1064794797
Entrez Id: 2562;112268151
Gene Symbol: GABRB3;LOC112268151
GABRB3;LOC112268151
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1064796514
rs1064796514
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C4310712
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 		A 0.700 GeneticVariation 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: rs11631129
rs11631129
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs11636988
rs11636988
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0853193
Disease:
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
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: rs12910337
rs12910337
Entrez Id: 2562;112268151
Gene Symbol: GABRB3;LOC112268151
GABRB3;LOC112268151
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs1426217
rs1426217
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0004352
Disease:
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
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: 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: 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: 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: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013
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
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders. 24999380 2014
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders. 24999380 2014