Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503504
rs727503504
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.700 CausalMutation CLINVAR A Systematic Review of Phenotypic Features Associated With Cardiac Troponin I Mutations in Hereditary Cardiomyopathies. 26440512

2015
dbSNP: rs727503504
rs727503504
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.700 CausalMutation CLINVAR Calcium-regulated conformational change in the C-terminal end segment of troponin I and its binding to tropomyosin. 21777381

2011
dbSNP: rs727503504
rs727503504
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.700 CausalMutation CLINVAR The C terminus of cardiac troponin I stabilizes the Ca2+-activated state of tropomyosin on actin filaments. 20035081

2010
dbSNP: rs727503504
rs727503504
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.700 CausalMutation CLINVAR Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. 20031618

2009