Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727504245
rs727504245
TNNT2
A 0.800 GeneticVariation CLINVAR Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications. 28408708

2017
dbSNP: rs727504245
rs727504245
TNNT2
A 0.800 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs727504245
rs727504245
TNNT2
A 0.800 GeneticVariation CLINVAR Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 23396983

2013
dbSNP: rs727504245
rs727504245
TNNT2
A 0.800 GeneticVariation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011
dbSNP: rs727504245
rs727504245
TNNT2
0.800 GeneticVariation UNIPROT Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). 21267010

2011
dbSNP: rs727504245
rs727504245
TNNT2
A 0.800 GeneticVariation CLINVAR Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy. 9140840

1997