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 |
rs104894229
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Severe neonatal manifestations of Costello syndrome.
|
18039947 |
2008 |
rs104894229
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
|
17054105 |
2007 |
rs104894229
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
|
16443854 |
2006 |
rs104894229
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.
|
16881968 |
2006 |
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 |
rs104894229
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Somatic mosaicism for an HRAS mutation causes Costello syndrome.
|
16969868 |
2006 |
rs104894229
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
|
16329078 |
2006 |
rs104894229
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |
rs1344172059
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs141322087
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1553265736
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1559279177
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587782927
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs748379243
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs766265889
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs794728602
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
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 |
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 |
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 |
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 |
rs1801253
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In conclusion, the β1 adrenergic receptor gene Arg389Gly polymorphism might not be associated with heart failure risk.
|
26125791 |
2015 |
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 |
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 |
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 |