Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607125
rs267607125
Entrez Id: 7134;11188
Gene Symbol: TNNC1;NISCH
TNNC1;NISCH
CUI: C2750472
Disease:
Cardiomyopathy, Familial Hypertrophic, 13 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs267607125
rs267607125
Entrez Id: 7134;11188
Gene Symbol: TNNC1;NISCH
TNNC1;NISCH
CUI: C2750472
Disease:
Cardiomyopathy, Familial Hypertrophic, 13 		A 0.800 CausalMutation CLINVAR
dbSNP: rs267607126
rs267607126
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C2750472
Disease:
Cardiomyopathy, Familial Hypertrophic, 13 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104893823
rs104893823
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C2678475
Disease:
Cardiomyopathy, Dilated, 1z 		T 0.700 CausalMutation CLINVAR
dbSNP: rs397514616
rs397514616
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C2750472
Disease:
Cardiomyopathy, Familial Hypertrophic, 13 		A 0.700 CausalMutation CLINVAR
dbSNP: rs730881061
rs730881061
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		C 0.700 CausalMutation CLINVAR
dbSNP: rs267607125
rs267607125
Entrez Id: 7134;11188
Gene Symbol: TNNC1;NISCH
TNNC1;NISCH
CUI: C2750472
Disease:
Cardiomyopathy, Familial Hypertrophic, 13 		0.800 GeneticVariation UNIPROT First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy. 11385718 2001
dbSNP: rs267607126
rs267607126
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C2750472
Disease:
Cardiomyopathy, Familial Hypertrophic, 13 		0.800 GeneticVariation UNIPROT First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy. 11385718 2001
dbSNP: rs267607123
rs267607123
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C2750472
Disease:
Cardiomyopathy, Familial Hypertrophic, 13 		0.700 GeneticVariation UNIPROT First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy. 11385718 2001
dbSNP: rs267607124
rs267607124
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C2750472
Disease:
Cardiomyopathy, Familial Hypertrophic, 13 		0.700 GeneticVariation UNIPROT First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy. 11385718 2001
dbSNP: rs397516847
rs397516847
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C2750472
Disease:
Cardiomyopathy, Familial Hypertrophic, 13 		0.700 GeneticVariation UNIPROT First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy. 11385718 2001
dbSNP: rs267607125
rs267607125
Entrez Id: 7134;11188
Gene Symbol: TNNC1;NISCH
TNNC1;NISCH
CUI: C2750472
Disease:
Cardiomyopathy, Familial Hypertrophic, 13 		0.800 GeneticVariation UNIPROT Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C. 16302972 2005
dbSNP: rs267607126
rs267607126
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C2750472
Disease:
Cardiomyopathy, Familial Hypertrophic, 13 		0.800 GeneticVariation UNIPROT Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C. 16302972 2005
dbSNP: rs267607123
rs267607123
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C2750472
Disease:
Cardiomyopathy, Familial Hypertrophic, 13 		0.700 GeneticVariation UNIPROT Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C. 16302972 2005
dbSNP: rs267607124
rs267607124
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C2750472
Disease:
Cardiomyopathy, Familial Hypertrophic, 13 		0.700 GeneticVariation UNIPROT Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C. 16302972 2005
dbSNP: rs397516847
rs397516847
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C2750472
Disease:
Cardiomyopathy, Familial Hypertrophic, 13 		0.700 GeneticVariation UNIPROT Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C. 16302972 2005
dbSNP: rs267607123
rs267607123
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		0.040 GeneticVariation BEFREE Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C. 16302972 2005
dbSNP: rs267607123
rs267607123
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C4551472
Disease:
Hypertrophic obstructive cardiomyopathy 		0.030 GeneticVariation BEFREE Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C. 16302972 2005
dbSNP: rs104893823
rs104893823
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic 		0.040 GeneticVariation BEFREE DCM troponin C mutant Gly159Asp blunts the response to troponin phosphorylation. 17577574 2007
dbSNP: rs104893823
rs104893823
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic 		0.040 GeneticVariation BEFREE Functional effects of the DCM mutant Gly159Asp troponin C in skinned muscle fibres. 17021793 2007
dbSNP: rs104893823
rs104893823
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		0.040 GeneticVariation BEFREE Dilated cardiomyopathy (DCM) can be caused by a Gly159Asp mutation in cardiac troponin C (cTnC). 17577574 2007
dbSNP: rs104893823
rs104893823
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		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
dbSNP: rs267607125
rs267607125
Entrez Id: 7134;11188
Gene Symbol: TNNC1;NISCH
TNNC1;NISCH
CUI: C2750472
Disease:
Cardiomyopathy, Familial Hypertrophic, 13 		0.800 GeneticVariation UNIPROT Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. 18572189 2008
dbSNP: rs267607126
rs267607126
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C2750472
Disease:
Cardiomyopathy, Familial Hypertrophic, 13 		0.800 GeneticVariation UNIPROT Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. 18572189 2008
dbSNP: rs267607125
rs267607125
Entrez Id: 7134;11188
Gene Symbol: TNNC1;NISCH
TNNC1;NISCH
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy 		A 0.710 GeneticVariation CLINVAR Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. 18572189 2008