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 |
rs76992529
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Transthyretin V122I (pV142I)* cardiac amyloidosis: an age-dependent autosomal dominant cardiomyopathy too common to be overlooked as a cause of significant heart disease in elderly African Americans.
|
28102864 |
2017 |
rs662
|
|
|
0.020 |
GeneticVariation |
BEFREE |
This meta-analysis also showed a protective association of Q192R polymorphism with HD in Asian (OR 0.49, 95%CI 0.37-0.66) and African populations (OR 0.67, 95%CI 0.53-0.84).
|
27858903 |
2016 |
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 |
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 |
rs76992529
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Homozygosity for the V122I mutation may be associated with earlier onset of cardiac disease.
|
17251346 |
2007 |
rs662
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We sought to investigate the association of the PON1 Q192R polymorphism with stroke and heart disease.
|
16472799 |
2006 |
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 |
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 |
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 |
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 |
rs397515126
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, cardiac disease is reduced and survival of heterozygote Tsc2<sup>S1365A</sup> knock-in mice subjected to the same stress is improved by PKG1 activation or expression of a phosphorylation-mimicking mutation (TSC2(S1365E)).
|
30700906 |
2019 |
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 |
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 |
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 |
rs3853601
|
|
|
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 |
rs3211892
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The SNP rs3211892 has previously been associated with heart disease and other conditions but the present study is the first to identify a significant association between variations in CD36 gene and the risk of Alzheimer's disease.
|
28111291 |
2017 |
rs4977574
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The Correlation Between 9p21 Chromosome rs4977574 Polymorphism Genotypes and the Development of Coronary Artery Heart Disease.
|
27240780 |
2017 |
rs72546668
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The T78M cav-3 variant has been associated with both skeletal and cardiac muscle pathologies but its functional contribution, especially to cardiac diseases, is still controversial.
|
28898996 |
2017 |
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 |
rs376970496
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Finally, a large number of genetic variations of CYBA have been reported, among them the C242T polymorphism, which has been extensively studied in association with coronary artery and heart diseases, but conflicting results continue to be reported.
|
27048830 |
2016 |
rs532019808
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Finally, a large number of genetic variations of CYBA have been reported, among them the C242T polymorphism, which has been extensively studied in association with coronary artery and heart diseases, but conflicting results continue to be reported.
|
27048830 |
2016 |