TNNI3, troponin I3, cardiac type, 7137

N. diseases: 9; N. variants: 39
Disease: Cardiomyopathy, Dilated ×
Source: CLINVAR ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397516355
rs397516355 		19 55154035 stop gained C/A;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 3 2012 2017
dbSNP: rs397516356
rs397516356 		19 55151917 missense variant C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs397516352
rs397516352 		19 55154115 missense variant A/G snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0