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 |
|
|
|
rs699
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The DD allele frequency is lower in Chinese, but the M235T variant of the angiotensinogen gene is more common in Chinese than whites; it is not known to what extent polymorphisms of the renin-angiotensin system affect clinical status or prognosis in Chinese patients with heart failure.
|
10097225 |
1999 |
rs1267969615
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The DD allele frequency is lower in Chinese, but the M235T variant of the angiotensinogen gene is more common in Chinese than whites; it is not known to what extent polymorphisms of the renin-angiotensin system affect clinical status or prognosis in Chinese patients with heart failure.
|
10097225 |
1999 |
rs121918090
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe two Italian first cousins with familial amyloidotic polyneuropathy associated with transthyretin variant consisting of the substitution of alanine for glycine at codon 47 (TTR Ala-47), from a family with a history of cardiac failure.
|
10677864 |
2000 |
rs121918080
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A 47-year-old man started developing severe diarrhea and weight loss at age 41 years, followed by urinary incontinence, autonomic-nervous-system abnormalities and serious heart failure; the diagnosis of FAP (ATTR Ser50Ile) was made on the basis of genetic, histochemical and immunohistochemical analysis.
|
10834537 |
2000 |
rs1801252
|
|
|
0.060 |
GeneticVariation |
BEFREE |
These data suggest that the beta(1)-receptor Ser49Gly variant might be associated with altered receptor function, resulting in myocardial protection in patients with heart failure.
|
11052857 |
2000 |
rs1800888
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Of particular importance, the Thr164Ile polymorphism, which is found in approximately 4% of humans, shows decreased receptor signaling, blunted cardiac response when expressed in transgenic mice, and is associated with a decreased survival rate in patients with congestive heart failure.
|
11222464 |
2001 |
rs61195471
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In family A a missense mutation (nucleotide G607A, amino acid E203K) was identified in 14 adult subjects; disease was manifest as progressive conduction disease in the fourth and fifth decades.Death was caused by heart failure.
|
11561226 |
2001 |
rs111033560
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Strikingly, both individuals homozygous for L39stop developed dilated cardiomyopathy and heart failure, requiring cardiac transplantation at ages 16 and 27.
|
12639993 |
2003 |
rs699
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Association of two angiotensinogen gene polymorphisms, M235T and G(-6)A, with chronic heart failure.
|
12767551 |
2003 |
rs1801253
|
|
|
0.100 |
GeneticVariation |
BEFREE |
An evaluation of the beta-1 adrenergic receptor Arg389Gly polymorphism in individuals with heart failure: a MERIT-HF sub-study.
|
12921807 |
2003 |
rs1320702652
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Possession of the C34T (Glu12Stop) nonsense mutation in the AMP-deaminase 1 (AMPD1) gene has been shown to be associated with improved prognosis in heart failure and ischemic heart disease.
|
14499869 |
2003 |
rs61661343
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Seven patients (28%) with the S143P mutation died suddenly or from progressive heart failure, or underwent heart transplantation.
|
15140538 |
2004 |
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 |
rs1801252
|
|
|
0.060 |
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 |
rs1303946678
|
|
|
0.010 |
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 |
rs1320702652
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Possession of the C34T mutation in AMP deaminase (AMPD1) gene has been shown to be associated with attenuation of the progression of heart failure and improved survival in ischemic heart disease.
|
16021915 |
2005 |
rs104894229
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |