Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918460
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

dbSNP: rs121918460
rs121918460
G 0.700 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006

dbSNP: rs121918460
rs121918460
G 0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002

dbSNP: rs76992529
rs76992529
TTR
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

dbSNP: rs662
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

dbSNP: rs1217691063
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

dbSNP: rs1217691063
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

dbSNP: rs397507444
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

dbSNP: rs76992529
rs76992529
TTR
0.020 GeneticVariation BEFREE Homozygosity for the V122I mutation may be associated with earlier onset of cardiac disease. 17251346

2007

dbSNP: rs662
rs662
0.020 GeneticVariation BEFREE We sought to investigate the association of the PON1 Q192R polymorphism with stroke and heart disease. 16472799

2006

dbSNP: rs397507444
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

dbSNP: rs148398509
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

dbSNP: rs1800624
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

dbSNP: rs199472968
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

dbSNP: rs397515126
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

dbSNP: rs10911021
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

dbSNP: rs139794067
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

dbSNP: rs2430561
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

dbSNP: rs3853601
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

dbSNP: rs3211892
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

dbSNP: rs4977574
rs4977574
0.010 GeneticVariation BEFREE The Correlation Between 9p21 Chromosome rs4977574 Polymorphism Genotypes and the Development of Coronary Artery Heart Disease. 27240780

2017

dbSNP: rs72546668
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

dbSNP: rs137854602
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

dbSNP: rs376970496
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

dbSNP: rs532019808
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