rs727504245, TNNT2

N. diseases: 4
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 GeneticVariation 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 GeneticVariation CLINVAR Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications. 28408708 2017
CARDIOMYOPATHY, DILATED, 1D (disorder)
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
0.700 GeneticVariation CLINVAR Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 23396983 2013
CARDIOMYOPATHY, DILATED, 1D (disorder)
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
0.700 GeneticVariation 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 GeneticVariation CLINVAR Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy. 9140840 1997