TNNT2, troponin T2, cardiac type, 7139

N. diseases: 79; N. variants: 73
Disease: Hypertrophic obstructive cardiomyopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964858
rs121964858
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C4551472
Disease:
Hypertrophic obstructive cardiomyopathy 		0.010 GeneticVariation BEFREE The Phe110Ile substitution causes hypertrophic cardiomyopathy with variable cardiac morphologies and a favorable prognosis. 9714088 1998