TNNI3, troponin I3, cardiac type, 7137

N. diseases: 159; N. variants: 50
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) ×
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: rs104894724
rs104894724 		0.790 0.120 19 55154146 missense variant G/A;C snv 4.0E-06
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) 		Cardiovascular Diseases 0.810 1.000 2 2003 2016
dbSNP: rs104894729
rs104894729 		0.827 0.080 19 55151892 missense variant C/A;G;T snv
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) 		Cardiovascular Diseases 0.810 1.000 2 2003 2010
dbSNP: rs104894730
rs104894730 		1.000 0.040 19 55154047 missense variant T/C snv
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) 		Cardiovascular Diseases 0.810 1.000 2 2003 2005
dbSNP: rs121917760
rs121917760 		0.925 0.040 19 55154148 missense variant A/G;T snv
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) 		Cardiovascular Diseases 0.810 1.000 2 2003 2016
dbSNP: rs397516354
rs397516354 		0.790 0.120 19 55154094 missense variant C/A;G;T snv 4.0E-05
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) 		Cardiovascular Diseases 0.700 1.000 5 2003 2012
dbSNP: rs121917761
rs121917761 		1.000 0.040 19 55154068 missense variant C/T snv
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) 		Cardiovascular Diseases 0.700 1.000 1 2003 2003
dbSNP: rs104894728
rs104894728 		0.925 0.040 19 55151898 missense variant T/C snv
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) 		Cardiovascular Diseases 0.700 0
dbSNP: rs1114167340
rs1114167340 		1.000 0.040 19 55154200 missense variant C/A snv
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) 		Cardiovascular Diseases 0.700 0
dbSNP: rs397516349
rs397516349 		0.807 0.080 19 55154145 missense variant C/T snv 1.6E-05
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) 		Cardiovascular Diseases 0.700 0
dbSNP: rs727503504
rs727503504 		0.807 0.080 19 55154071 missense variant G/A;C snv
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) 		Cardiovascular Diseases 0.700 0
dbSNP: rs727503503
rs727503503 		0.827 0.120 19 55154070 missense variant C/T snv
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) 		Cardiovascular Diseases 0.010 1.000 1 2016 2016