|
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 |
|
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 |
|
rs10911021
|
|
|
0.010 |
GeneticVariation |
BEFREE |
As the SNP rs10911021 showed significant association with oxidative stress parameters and these parameters should an increased oxidative stress in the CHD subjects, it can be concluded that the SNP may have contributed to increase the risk of heart diseases in the diabetic subjects by increasing the oxidative stress.
|
29304826 |
2018 |
|
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 |
|
rs11568023
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Under dominant model, the significant AF risk was observed in rs3789678 between the AF group and non AF heart control group; And the protective effect was found in rs11568023, compared with the non-AF heart disease control group.
|
25723521 |
2015 |
|
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 |
|
rs1217691063
|
|
|
0.020 |
GeneticVariation |
BEFREE |
MTHFR C677T polymorphism has been studied as a possible risk factor for a variety of common conditions including heart disease, stroke and hypertension.
|
24192663 |
2014 |
|
rs121909298
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This is controversial to our previous findings in a large consanguineous family where this p.S151A mutation showed no relevance for cardiac disease.
|
23695275 |
2014 |
|
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 |
|
rs121918460
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
|
16358218 |
2006 |
|
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 |
|
rs137854602
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The R1512W carrier was a 38-year-old male SUNDS victim who died suddenly after tachypnea in nocturnal sleep without any structural heart disease.
|
27281089 |
2016 |
|
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 |
|
rs139794067
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To address this challenge and showcase the uncertainty surrounding genomic variant interpretation, we recruited a "healthy" asymptomatic individual, lacking cardiac-disease clinical history, carrying a hypertrophic cardiomyopathy (HCM)-associated genetic variant (NM_000258.2:c.170C>A, NP_000249.1:p.Ala57Asp) in the sarcomeric gene MYL3, reported by the ClinVar database to be "likely pathogenic."
|
29914921 |
2018 |
|
rs148398509
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The C-terminal HCN4 variant P883R alters channel properties and acts as genetic modifier of atrial fibrillation and structural heart disease.
|
31481236 |
2019 |
|
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 |
|
rs1800624
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs1800624 SNP involves <i>AGER</i> gene regulation and may be related to reduced risk of heart disease, cancer, Crohn's disease, and type 1 diabetes complications.
|
30863465 |
2019 |
|
rs1801133
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The polymorphism 677C>T (NM_005957.4:c.665C>T/p.Ala222Val, rs1801133:C>T) in methylenetetrahydrofolate reductase (MTHFR) results in mild enzymatic deficiency and increased risk for several complex traits including adverse reproductive outcomes, birth defects, and heart disease.
|
24616178 |
2014 |
|
rs1904694
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In 609 randomly selected participants (51.2% women; mean age, 48.8 years; 36.6% hypertensive) who were free from overt cardiac disease, we performed echocardiography and genotyped intronic tag single-nucleotide polymorphisms (SNPs) rs1904694, rs7897633, and rs7905063 in PRKG1.
|
24060898 |
2013 |
|
rs199472968
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In vivo assays using zebrafish provide a means for testing genetic variants of cardiac disease; however, limited information on the role of the E637K mutation is available from in vivo systems and their utility has yet to be fully exploited in the context of LQT2.
|
30047011 |
2019 |
|
rs216311
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In summary, vWF gene polymorphisms at site A1381T were not associated with coronary heart disease, but plasma vWF levels were influenced by vWF gene polymorphisms at site A1381T, blood type and coronary heart disease.
|
22923007 |
2012 |
|
rs2230806
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our data indicate that subjects with the ABCA1 R219K variant may get significantly less heart disease risk reduction from pravastatin treatment than those without the variant.
|
24854628 |
2014 |
|
rs2430561
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Only BAT1 rs3853601 -22G carriers (B1 vs. C: OR = 0.5; p-value = 0.03) and IFNG rs2430561 +874AT (A vs. C: OR = 0.7; p-value = 0.03; A vs. B1+C: OR = 0.8; p-value = 0.02) showed a significant association with protection from cardiopathy in a logistic regression analysis with adjustment for gender and ethnicity; however, the association disappeared after performing adjustment for multiple testing.
|
29768622 |
2018 |
|
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 |