Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730881116
rs730881116
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder)
T 0.700 GeneticVariation CLINVAR Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 23396983 2013
dbSNP: rs730881116
rs730881116
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder)
T 0.700 GeneticVariation CLINVAR Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population. 22857948 2012
dbSNP: rs730881116
rs730881116
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder)
T 0.700 GeneticVariation CLINVAR Early identification of mutation carriers in familial hypertrophic cardiomyopathy by combined echocardiography and tissue Doppler imaging. 20439259 2010
dbSNP: rs730881116
rs730881116
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder)
T 0.700 GeneticVariation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239 2003