rs727504246, TNNT2

N. diseases: 5
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CARDIOMYOPATHY, DILATED, 1D (disorder)
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CARDIOMYOPATHY, DILATED, 1D (disorder)
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
0.700 CausalMutation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266 2013
CARDIOMYOPATHY, DILATED, 1D (disorder)
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
0.700 CausalMutation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275 2011
CARDIOMYOPATHY, DILATED, 1D (disorder)
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
0.700 CausalMutation CLINVAR Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy. 11034944 2000