|
rs121918460
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
|
11992261 |
2002 |
|
rs1267969615
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The ThrThr genotype of the angiotensinogen (AGT) Met235Thr polymorphism has been associated with elevated AGT levels, hypertension, increased heart disease risk, and improved blood pressure (BP) response to angiotensin-converting enzyme (ACE) inhibitors.
|
14643574 |
2003 |
|
rs699
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The ThrThr genotype of the angiotensinogen (AGT) Met235Thr polymorphism has been associated with elevated AGT levels, hypertension, increased heart disease risk, and improved blood pressure (BP) response to angiotensin-converting enzyme (ACE) inhibitors.
|
14643574 |
2003 |
|
rs397507444
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The results of this study indicate that the MTHFR A1298C SNP is more prevalent among the Tamilians when compared to the MTHFR C677T SNP, suggesting a possible role of MTHFR A1298C in the pathogenesis of heart diseases.
|
15351230 |
2004 |
|
rs137854607
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the DCM cohort, additional missense (T220I, R814W, D1595H) and truncation (2550-2551insTG) SCN5A mutations, segregating with cardiac disease or arising de novo, were discovered in unrelated probands.
|
15671429 |
2005 |
|
rs1064794243
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Like the cardiac disorders (long QT syndrome type 3 or Brugada syndrome) and generalized epilepsy with febrile seizures plus (GEFS+) associated with C-terminal mutations in other NaV channels, the primary effect of F1705I was a partial disruption of fast inactivation.
|
15774523 |
2005 |
|
rs121918460
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
|
16358218 |
2006 |
|
rs662
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We sought to investigate the association of the PON1 Q192R polymorphism with stroke and heart disease.
|
16472799 |
2006 |
|
rs76992529
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Homozygosity for the V122I mutation may be associated with earlier onset of cardiac disease.
|
17251346 |
2007 |
|
rs2476601
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study we investigated a possible role for the single nucleotide polymorphism C1858T of the PTPN22 (protein tyrosine phosphatase nonreceptor 22) gene in determining the susceptibility to Trypanosoma cruzi infection, as well as in development of chagasic heart disease.
|
17493151 |
2007 |
|
rs11549029
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a C59T substitution in the human Hsp20 gene in one patient and three individuals without heart disease.
|
18790732 |
2008 |
|
rs28935490
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A substitution in the GLA gene (c.937G>T) was found, and its involvement in the cardiac disease is discussed.
|
19373884 |
2009 |
|
rs2968857
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a pair-matched, hospital-based case control study (297 vs 297) conducted in Chinese Hans, we investigated 4 tagging single nucleotide polymorphisms (tSNPs), rs1805120, rs1036145, rs3807375, and rs2968857 in the KCNH2 gene, and determined their association with AF acquired from structural heart diseases.
|
19490382 |
2009 |
|
rs41310765
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A1180V expresses a mild Na(+) channel phenotype in vitro and a corresponding clinical phenotype in unaffected mutation carriers, implying that A1180V caused structural heart disease in affected carriers by disturbing Na(+) influx and, hence, cellular Na(+) homeostasis.
|
19808398 |
2008 |
|
rs59270054
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings suggest that LMNA E82K significantly reduced the Cx43 expression and altered its localization which may be one of the pathological mechanisms underlying LMNA-related heart disease.
|
20497714 |
2010 |
|
rs4994
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Independent predictive roles of eotaxin Ala23Thr, paraoxonase 2 Ser311Cys and beta-adrenergic receptor Trp64Arg polymorphisms on cardiac disease in Type 2 Diabetes--an 8-year prospective cohort analysis of 1297 patients.
|
20536507 |
2010 |
|
rs7493
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Independent predictive roles of eotaxin Ala23Thr, paraoxonase 2 Ser311Cys and beta-adrenergic receptor Trp64Arg polymorphisms on cardiac disease in Type 2 Diabetes--an 8-year prospective cohort analysis of 1297 patients.
|
20536507 |
2010 |
|
rs1217691063
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The results of this study indicate that the MTHFR A1298C SNP is more prevalent among south Indians compared with the MTHFR C677T SNP, suggesting a possible role of MTHFR A1298C in the pathogenesis of heart diseases.
|
21749215 |
2011 |
|
rs397507444
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The results of this study indicate that the MTHFR A1298C SNP is more prevalent among south Indians compared with the MTHFR C677T SNP, suggesting a possible role of MTHFR A1298C in the pathogenesis of heart diseases.
|
21749215 |
2011 |
|
rs17465637
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study investigated associations between polymorphisms at 1p13.3 (rs599839), 1q41 (rs17465637), and 3q22.3 (rs9818870) and cardiovascular outcomes in healthy volunteers and in patients with established heart disease.
|
21984477 |
2011 |
|
rs599839
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study investigated associations between polymorphisms at 1p13.3 (rs599839), 1q41 (rs17465637), and 3q22.3 (rs9818870) and cardiovascular outcomes in healthy volunteers and in patients with established heart disease.
|
21984477 |
2011 |
|
rs9818870
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These data suggest that coronary artery disease genomic risk variants at 1p13.3 and 1q41 are associated with subsequent clinical outcome in heart patients and confirm rs9818870 at 3q22.3 as a predictor of cardiovascular risk in individuals free of overt heart disease.
|
21984477 |
2011 |
|
rs104894833
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Individuals with the E66Q enzyme have been suspected to have the later-onset Fabry disease phenotype leading to renal and cardiac disease.
|
22305854 |
2012 |
|
rs373721390
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Another interesting variant was Ile26Ile (c.78C>T), found in a New York Heart Association class III patient with a depressed left ventricular ejection fraction (30%), left bundle branch block, and a family history of heart disease.
|
22413764 |
2012 |
|
rs121918460
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.
|
22711529 |
2012 |