Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516088
rs397516088
T 0.700 CausalMutation CLINVAR Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3. 31568572

2019

dbSNP: rs397516088
rs397516088
T 0.700 CausalMutation CLINVAR RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy. 31333075

2019

dbSNP: rs397516088
rs397516088
T 0.700 CausalMutation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2016

dbSNP: rs397516088
rs397516088
T 0.700 CausalMutation CLINVAR Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression. 24704860

2014

dbSNP: rs397516088
rs397516088
T 0.700 CausalMutation CLINVAR Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 23283745

2013

dbSNP: rs397516088
rs397516088
T 0.700 CausalMutation CLINVAR Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations. 21835320

2011

dbSNP: rs397516088
rs397516088
T 0.700 CausalMutation CLINVAR Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. 20031618

2009

dbSNP: rs397516088
rs397516088
T 0.700 CausalMutation CLINVAR Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure. 18761664

2008

dbSNP: rs397516088
rs397516088
T 0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003

dbSNP: rs397516088
rs397516088
T 0.700 GeneticVariation CLINVAR