rs141121678, TNNT2

N. diseases: 1
Disease: Hypertrophic Cardiomyopathy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
0.010 GeneticVariation BEFREE This novel mutation in MYBPC3, not present in 200 chromosomes from 200 healthy individuals, affects a codon known to harbor an HCM-causing mutation--p.Arg253His. 21425739 2011