Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893823
rs104893823
0.040 GeneticVariation BEFREE Mutations in cardiac troponin C (D75Y, E59D, and G159D), a key regulatory protein of myofilament contraction, have been associated with dilated cardiomyopathy (DCM). 27133568

2016

dbSNP: rs104893823
rs104893823
0.040 GeneticVariation BEFREE The dilated cardiomyopathy G159D mutation in cardiac troponin C weakens the anchoring interaction with troponin I. 18803402

2008

dbSNP: rs104893823
rs104893823
0.040 GeneticVariation BEFREE Dilated cardiomyopathy (DCM) can be caused by a Gly159Asp mutation in cardiac troponin C (cTnC). 17577574

2007

dbSNP: rs104893823
rs104893823
0.040 GeneticVariation BEFREE We investigated the effect of the dilated cardiomyopathy linked cTnC Gly159 to Asp (cTnC-G159D) mutation on the development of Ca(2+)-dependent tension and ATPase rate in whole troponin-exchanged skinned rat trabeculae. 17446435

2007