|
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 |
Severe neonatal manifestations of Costello syndrome.
|
18039947 |
2008 |
|
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 |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |
|
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 |
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
|
16329078 |
2006 |
|
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 |
We investigated whether a predefined combination of the Arg389Gly polymorphism in the adrenergic β(1) -receptor gene (ADRB1) and the Gln27Glu polymorphism in the adrenergic β(2) -receptor gene (ADRB2) could predict survival in carvedilol- and metoprolol-treated chronic heart failure (HF) patients.
|
21395649 |
2011 |
|
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 tested the hypothesis that polymorphisms at codons 389 (Arg389Gly) and 49 (Ser49Gly) of the beta(1)-adrenergic receptor would be associated with differences in initial tolerability of beta-blocker therapy in patients with heart failure.
|
15735607 |
2005 |
|
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 |
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 |
|
rs1801253
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Single nucleotide polymorphisms (SNPs) within the β(1)- (Ser49Gly, Arg389Gly) and β(2)-adrenoceptor (Arg16Gly, Gln27Glu, Thr164Ile) have been associated with alterations in adrenoceptor (AR) function sensitivity in vitro and in vivo and possibly contribute to HF progression.
|
20803192 |
2010 |
|
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 |
We examined whether the Arg389Gly polymorphism in ADRβ1 interacts with the dose requirements of beta-blockers in patients with systolic HF.
|
23115322 |
2013 |