TNNI3, troponin I3, cardiac type, 7137

N. diseases: 159; N. variants: 50
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516341
rs397516341
Entrez Id: 7137;101930593
Gene Symbol: TNNI3;LOC101930593
TNNI3;LOC101930593
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
C 0.700 GeneticVariation CLINVAR
dbSNP: rs397516347
rs397516347
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0878544
Disease:
Cardiomyopathies
T 0.700 GeneticVariation CLINVAR
dbSNP: rs397516349
rs397516349
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF
T 0.700 CausalMutation CLINVAR
dbSNP: rs397516349
rs397516349
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2678474
Disease:
CARDIOMYOPATHY, DILATED, 2A (disorder)
T 0.700 CausalMutation CLINVAR
dbSNP: rs397516349
rs397516349
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
T 0.700 CausalMutation CLINVAR
dbSNP: rs397516349
rs397516349
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1861861
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
T 0.700 CausalMutation CLINVAR
dbSNP: rs397516352
rs397516352
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007193
Disease:
Cardiomyopathy, Dilated
G 0.700 GeneticVariation CLINVAR
dbSNP: rs397516354
rs397516354
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0878544
Disease:
Cardiomyopathies
A 0.700 GeneticVariation CLINVAR
dbSNP: rs397516354
rs397516354
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2678474
Disease:
CARDIOMYOPATHY, DILATED, 2A (disorder)
T 0.700 CausalMutation CLINVAR
dbSNP: rs397516354
rs397516354
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1861861
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
T 0.700 CausalMutation CLINVAR
dbSNP: rs397516354
rs397516354
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF
T 0.700 CausalMutation CLINVAR
dbSNP: rs397516355
rs397516355
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007193
Disease:
Cardiomyopathy, Dilated
T 0.700 GeneticVariation CLINVAR
dbSNP: rs397516357
rs397516357
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0878544
Disease:
Cardiomyopathies
T 0.700 CausalMutation CLINVAR
dbSNP: rs397516357
rs397516357
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial
T 0.700 GeneticVariation CLINVAR
dbSNP: rs727503501
rs727503501
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial
T 0.700 GeneticVariation CLINVAR
dbSNP: rs727503504
rs727503504
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
C 0.700 GeneticVariation CLINVAR
dbSNP: rs727503504
rs727503504
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1861861
Disease:
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
C 0.700 GeneticVariation CLINVAR
dbSNP: rs727503504
rs727503504
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C2750091
Disease:
Cardiomyopathy, Dilated, 1FF
C 0.700 GeneticVariation CLINVAR
dbSNP: rs727503504
rs727503504
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
A 0.700 CausalMutation CLINVAR
dbSNP: rs727504243
rs727504243
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
A 0.700 GeneticVariation CLINVAR
dbSNP: rs727504275
rs727504275
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.700 GeneticVariation UNIPROT
dbSNP: rs730880231
rs730880231
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007196
Disease:
Restrictive cardiomyopathy
G 0.700 CausalMutation CLINVAR
dbSNP: rs730881069
rs730881069
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0878544
Disease:
Cardiomyopathies
T 0.700 GeneticVariation CLINVAR
dbSNP: rs397516349
rs397516349
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
T 0.700 GeneticVariation CLINVAR Orthotic services: a need for change. 3144325 1988
dbSNP: rs104894724
rs104894724
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.800 GeneticVariation UNIPROT Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. 9241277 1997