Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894724
rs104894724
TNNI3
0.740 GeneticVariation BEFREE The heightened Ca2+ sensitivity of force found with hypertrophic cardiomyopathy (HCM)-associated mutant cardiac troponin I (cTnIR145G; R146G in rodents) has been postulated to be an underlying cause of hypertrophic growth and premature sudden death in humans and in animal models of the disease. 12242271

2002
dbSNP: rs104894724
rs104894724
TNNI3
C 0.740 CausalMutation CLINVAR Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy. 11801593

2002
dbSNP: rs104894724
rs104894724
TNNI3
C 0.740 CausalMutation CLINVAR Effects of phosphorylation and mutation R145G on human cardiac troponin I function. 11724573

2001
dbSNP: rs104894724
rs104894724
TNNI3
C 0.740 CausalMutation CLINVAR Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy. 10806205

2000
dbSNP: rs104894724
rs104894724
TNNI3
C 0.740 CausalMutation CLINVAR Effect of Arg145Gly mutation in human cardiac troponin I on the ATPase activity of cardiac myofibrils. 10731705

2000
dbSNP: rs104894724
rs104894724
TNNI3
C 0.740 CausalMutation CLINVAR Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. 9241277

1997
dbSNP: rs104894724
rs104894724
TNNI3
0.740 GeneticVariation BEFREE Family studies showed that an Arg145Gly mutation was linked to HCM and a Lys206Gln mutation had occurred de novo, thus strongly suggesting that cTnI is the seventh HCM gene. 9241277

1997