TNNT2, troponin T2, cardiac type, 7139

N. diseases: 79; N. variants: 73
Disease: Hypertrophic Cardiomyopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964857
rs121964857
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.710 GeneticVariation BEFREE TNNT2 R278C was present in a woman with severe HC, but a sister and a daughter were mutation carriers and did not have hypertrophy. 12881443 2003
dbSNP: rs121964857
rs121964857
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		A 0.710 GeneticVariation CLINVAR