TNNI3, troponin I3, cardiac type, 7137

N. diseases: 159; N. variants: 50
Disease: Restrictive cardiomyopathy ×
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: rs104894729
rs104894729 		0.827 0.080 19 55151892 missense variant C/A;G;T snv
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		Cardiovascular Diseases 0.710 1.000 11 2003 2013
dbSNP: rs727503499
rs727503499 		1.000 0.040 19 55151893 missense variant G/A snv
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2010 2011
dbSNP: rs727503503
rs727503503 		0.827 0.120 19 55154070 missense variant C/T snv
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2007 2009
dbSNP: rs727503504
rs727503504 		0.807 0.080 19 55154071 missense variant G/A;C snv
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2009 2009
dbSNP: rs730880231
rs730880231 		1.000 0.040 19 55154057 missense variant C/G;T snv 4.0E-06
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs104894724
rs104894724 		0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		Cardiovascular Diseases 0.020 1.000 2 2009 2016
dbSNP: rs770640091
rs770640091 		0.925 0.040 19 55157297 missense variant G/A snv 4.1E-06
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2016 2016