Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894229
rs104894229
T 0.700 CausalMutation CLINVAR Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism. 19206176

2009

dbSNP: rs104894229
rs104894229
T 0.700 CausalMutation CLINVAR Severe neonatal manifestations of Costello syndrome. 18039947

2008

dbSNP: rs104894229
rs104894229
T 0.700 CausalMutation CLINVAR Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. 17054105

2007

dbSNP: rs104894229
rs104894229
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 16443854

2006

dbSNP: rs104894229
rs104894229
T 0.700 CausalMutation CLINVAR Recurring HRAS mutation G12S in Dutch patients with Costello syndrome. 16881968

2006

dbSNP: rs104894229
rs104894229
T 0.700 CausalMutation CLINVAR HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. 16372351

2006

dbSNP: rs104894229
rs104894229
T 0.700 CausalMutation CLINVAR Somatic mosaicism for an HRAS mutation causes Costello syndrome. 16969868

2006

dbSNP: rs104894229
rs104894229
T 0.700 CausalMutation CLINVAR HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. 16329078

2006

dbSNP: rs104894229
rs104894229
T 0.700 CausalMutation CLINVAR Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316

2005

dbSNP: rs1344172059
rs1344172059
T 0.700 GeneticVariation CLINVAR

dbSNP: rs141322087
rs141322087
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553265736
rs1553265736
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1559279177
rs1559279177
HJV
T 0.700 CausalMutation CLINVAR

dbSNP: rs587782927
rs587782927
DSP
C 0.700 GeneticVariation CLINVAR

dbSNP: rs748379243
rs748379243
A 0.700 CausalMutation CLINVAR

dbSNP: rs766265889
rs766265889
A 0.700 GeneticVariation CLINVAR

dbSNP: rs794728602
rs794728602
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1801253
rs1801253
0.100 GeneticVariation BEFREE The objective of this study was to determine whether ADRB1 Ser49Gly and Arg389Gly are associated with recovery of left ventricular ejection fraction (LVEF) in patients with heart failure. 30756358

2019

dbSNP: rs1801253
rs1801253
0.100 GeneticVariation BEFREE The β1 adrenergic receptor (ADRB1) Arg389Gly, G-protein receptor kinase type 5 (GRK5) Gln41Leu, G-protein β-3 subunit (GNB3) 825 C/T, and α2c deletion affect adrenergic tone, impact heart failure outcomes and differ in prevalence by ethnicity. 30978507

2019

dbSNP: rs1801253
rs1801253
0.100 GeneticVariation BEFREE Bucindolol is a non-selective beta-blocker with mild vasodilator activity previously found to have accentuated antiarrhythmic effects and increased efficacy for preventing heart failure events in patients homozygous for the major allele of the ADRB1 Arg389Gly polymorphism (ADRB1 Arg389Arg genotype). 29754666

2018

dbSNP: rs1801253
rs1801253
0.100 GeneticVariation BEFREE We used uniform methodology to investigate BB dose-ADRB1 Arg389Gly polymorphism interaction with major clinical end points in BEST/bucindolol and HF-ACTION/other BB databases. 30354340

2018

dbSNP: rs1801253
rs1801253
0.100 GeneticVariation BEFREE In conclusion, the β1 adrenergic receptor gene Arg389Gly polymorphism might not be associated with heart failure risk. 26125791

2015

dbSNP: rs1801253
rs1801253
0.100 GeneticVariation BEFREE The present study sought to investigate whether ADRB1 Arg389Gly (rs1801253), GNAS -1211 G/A (rs6123837) and GNAS 2291 C/T (rs6026584) variants are associated with left ventricular function and exercise tolerance in heart failure patients. 23065660

2013

dbSNP: rs1801253
rs1801253
0.100 GeneticVariation BEFREE We examined whether the Arg389Gly polymorphism in ADRβ1 interacts with the dose requirements of beta-blockers in patients with systolic HF. 23115322

2013

dbSNP: rs1801253
rs1801253
0.100 GeneticVariation BEFREE The Arg389Gly polymorphism has a major impact on the heart-rate response to carvedilol (but not bisoprolol) in patients with heart failure plus atrial fibrillation. 22617224

2012