TNNI3, troponin I3, cardiac type, 7137

N. diseases: 159; N. variants: 50
Disease: Cardiomyopathy, Familial Idiopathic ×
Source: ALL
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: rs1384750266
rs1384750266 		1.000 0.040 19 55154199 missense variant T/C snv 4.0E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs267607129
rs267607129 		0.925 0.040 19 55151912 missense variant G/C snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs267607130
rs267607130 		0.925 0.040 19 55157052 missense variant T/G snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs730881071
rs730881071 		1.000 0.040 19 55154158 missense variant G/A snv 8.0E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2003 2003