Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503506
rs727503506
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		G 0.700 GeneticVariation CLINVAR Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing. 28498465

2017
dbSNP: rs727503506
rs727503506
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		G 0.700 GeneticVariation CLINVAR Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing. 28790153

2017
dbSNP: rs727503506
rs727503506
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		G 0.700 GeneticVariation CLINVAR Detection of mutations in symptomatic patients with hypertrophic cardiomyopathy in Taiwan. 25086479

2015
dbSNP: rs727503506
rs727503506
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		G 0.700 GeneticVariation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011