Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727504275
rs727504275
TNNI3
T 0.700 GeneticVariation CLINVAR Ventricular septal defect and restrictive cardiomyopathy in a paediatric TNNI3 mutation carrier. 20569525

2010
dbSNP: rs727504275
rs727504275
TNNI3
T 0.700 GeneticVariation CLINVAR Cardiac troponin mutations and restrictive cardiomyopathy. 20617149

2010
dbSNP: rs727504275
rs727504275
TNNI3
T 0.700 GeneticVariation CLINVAR Pure restrictive cardiomyopathy associated with cardiac troponin I gene mutation: mismatch between the lack of hypertrophy and the presence of disarray. 18801787

2008
dbSNP: rs727504275
rs727504275
TNNI3
T 0.700 GeneticVariation CLINVAR Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. 16199542

2005
dbSNP: rs727504275
rs727504275
TNNI3
T 0.700 GeneticVariation CLINVAR Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences. 15698845

2005