Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039817
rs886039817
Entrez Id: 2560
Gene Symbol: GABRB1
GABRB1
CUI: C4310691
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
C 0.800 CausalMutation CLINVAR
dbSNP: rs886039817
rs886039817
Entrez Id: 2560
Gene Symbol: GABRB1
GABRB1
CUI: C4310691
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
0.800 GeneticVariation UNIPROT
dbSNP: rs886039818
rs886039818
Entrez Id: 2560
Gene Symbol: GABRB1
GABRB1
CUI: C4310691
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
0.800 GeneticVariation UNIPROT
dbSNP: rs886039818
rs886039818
Entrez Id: 2560
Gene Symbol: GABRB1
GABRB1
CUI: C4310691
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
T 0.800 CausalMutation CLINVAR
dbSNP: rs1159315
rs1159315
Entrez Id: 2560
Gene Symbol: GABRB1
GABRB1
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
G 0.700 GeneticVariation GWASCAT High Genetic Risk Scores of ASIC2, MACROD2, CHRM3, and C2orf83 Genetic Variants Associated with Polycystic Ovary Syndrome Impair Insulin Sensitivity and Interact with Energy Intake in Korean Women. 30343302 2019
dbSNP: rs12108623
rs12108623
Entrez Id: 2560
Gene Symbol: GABRB1
GABRB1
CUI: C0596887
Disease:
mathematical ability
T 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: rs7672943
rs7672943
Entrez Id: 2560
Gene Symbol: GABRB1
GABRB1
CUI: C0596887
Disease:
mathematical ability
T 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: rs148121703
rs148121703
Entrez Id: 2560
Gene Symbol: GABRB1
GABRB1
CUI: C0010068
Disease:
Coronary heart disease
C 0.700 GeneticVariation GWASCAT Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib. 28753643 2017
dbSNP: rs148121703
rs148121703
Entrez Id: 2560
Gene Symbol: GABRB1
GABRB1
CUI: C0948089
Disease:
Acute Coronary Syndrome
C 0.700 GeneticVariation GWASCAT Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib. 28753643 2017
dbSNP: rs4396968
rs4396968
Entrez Id: 2560
Gene Symbol: GABRB1
GABRB1
CUI: C0302592
Disease:
Cervix carcinoma
T 0.700 GeneticVariation GWASCAT Defining the genetic susceptibility to cervical neoplasia-A genome-wide association study. 28806749 2017
dbSNP: rs1135401786
rs1135401786
Entrez Id: 2560
Gene Symbol: GABRB1
GABRB1
CUI: C4310691
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
T 0.700 GeneticVariation CLINVAR
dbSNP: rs2229940
rs2229940
Entrez Id: 2557;2560
Gene Symbol: GABRA4;GABRB1
GABRA4;GABRB1
CUI: C0035258
Disease:
Restless Legs Syndrome
0.010 GeneticVariation BEFREE These results suggest association between GABRR3rs832032 polymorphism and the risk for RLS, and a modifier effect of GABRA4 rs2229940 on the age of onset of RLS. 29720720 2018
dbSNP: rs2044081
rs2044081
Entrez Id: 2560
Gene Symbol: GABRB1
GABRB1
CUI: C0740858
Disease:
Substance abuse problem
0.010 GeneticVariation BEFREE Exploiting the IMAGEN database (Schumann et al., 2010), we explored in a human adolescent population whether possession of the minor (T) variant of the single nucleotide polymorphism (SNP) rs2044081 is associated with performance of tasks measuring aspects of impulsivity, and reward sensitivity that are implicated in drug and alcohol abuse. 28261068 2017
dbSNP: rs2044081
rs2044081
Entrez Id: 2560
Gene Symbol: GABRB1
GABRB1
CUI: C0021125
Disease:
Impulsive Behavior
0.010 GeneticVariation BEFREE Exploiting the IMAGEN database (Schumann et al., 2010), we explored in a human adolescent population whether possession of the minor (T) variant of the single nucleotide polymorphism (SNP) rs2044081 is associated with performance of tasks measuring aspects of impulsivity, and reward sensitivity that are implicated in drug and alcohol abuse. 28261068 2017
dbSNP: rs1403522266
rs1403522266
Entrez Id: 2560
Gene Symbol: GABRB1
GABRB1
CUI: C0086132
Disease:
Depressive Symptoms
0.010 GeneticVariation BEFREE After correcting for Bonferroni multiple tests, we found associations between the MAOA c.1460C>T (SNP 1137070), COMT c.472G>A (SNP 4680), MTHFR c.677C>T (SNP 1801133) and ESR1 454(-351) A>G (SNP 9340799) polymorphisms to mild and moderate depressive symptoms in menopausal women. 26620113 2016
dbSNP: rs2351299
rs2351299
Entrez Id: 2560
Gene Symbol: GABRB1
GABRB1
CUI: C0004352
Disease:
Autistic Disorder
0.010 GeneticVariation BEFREE Analysis of the subset of families with a positive history of seizure activity in at least one autism patient revealed no association to GABRA4; however, three SNPs within GABRB1 showed significant allelic association; rs2351299 (p=0.0163), rs4482737 (p=0.0339), and rs3832300 (p=0.0253). 16770606 2006
dbSNP: rs2351299
rs2351299
Entrez Id: 2560
Gene Symbol: GABRB1
GABRB1
CUI: C0036572
Disease:
Seizures
0.010 GeneticVariation BEFREE Analysis of the subset of families with a positive history of seizure activity in at least one autism patient revealed no association to GABRA4; however, three SNPs within GABRB1 showed significant allelic association; rs2351299 (p=0.0163), rs4482737 (p=0.0339), and rs3832300 (p=0.0253). 16770606 2006
dbSNP: rs3832300
rs3832300
Entrez Id: 2560
Gene Symbol: GABRB1
GABRB1
CUI: C0004352
Disease:
Autistic Disorder
0.010 GeneticVariation BEFREE Analysis of the subset of families with a positive history of seizure activity in at least one autism patient revealed no association to GABRA4; however, three SNPs within GABRB1 showed significant allelic association; rs2351299 (p=0.0163), rs4482737 (p=0.0339), and rs3832300 (p=0.0253). 16770606 2006
dbSNP: rs3832300
rs3832300
Entrez Id: 2560
Gene Symbol: GABRB1
GABRB1
CUI: C0036572
Disease:
Seizures
0.010 GeneticVariation BEFREE Analysis of the subset of families with a positive history of seizure activity in at least one autism patient revealed no association to GABRA4; however, three SNPs within GABRB1 showed significant allelic association; rs2351299 (p=0.0163), rs4482737 (p=0.0339), and rs3832300 (p=0.0253). 16770606 2006
dbSNP: rs4482737
rs4482737
Entrez Id: 2560
Gene Symbol: GABRB1
GABRB1
CUI: C0036572
Disease:
Seizures
0.010 GeneticVariation BEFREE Analysis of the subset of families with a positive history of seizure activity in at least one autism patient revealed no association to GABRA4; however, three SNPs within GABRB1 showed significant allelic association; rs2351299 (p=0.0163), rs4482737 (p=0.0339), and rs3832300 (p=0.0253). 16770606 2006
dbSNP: rs4482737
rs4482737
Entrez Id: 2560
Gene Symbol: GABRB1
GABRB1
CUI: C0004352
Disease:
Autistic Disorder
0.010 GeneticVariation BEFREE Analysis of the subset of families with a positive history of seizure activity in at least one autism patient revealed no association to GABRA4; however, three SNPs within GABRB1 showed significant allelic association; rs2351299 (p=0.0163), rs4482737 (p=0.0339), and rs3832300 (p=0.0253). 16770606 2006