Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727504246
rs727504246
A 0.800 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs727504246
rs727504246
A 0.800 CausalMutation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

dbSNP: rs727504246
rs727504246
A 0.800 CausalMutation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011

dbSNP: rs727504246
rs727504246
A 0.800 GeneticVariation CLINVAR Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy. 11034944

2000

dbSNP: rs727504246
rs727504246
A 0.800 CausalMutation CLINVAR Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy. 11034944

2000

dbSNP: rs727504246
rs727504246
0.800 GeneticVariation UNIPROT