TNNT2, troponin T2, cardiac type, 7139

N. diseases: 79; N. variants: 73
Disease: Cardiomyopathy, Dilated ×
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: rs74315379
rs74315379 		0.827 0.080 1 201364336 missense variant G/A;T snv 1.2E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.720 1.000 13 2001 2016
dbSNP: rs74315380
rs74315380 		0.851 0.080 1 201364366 missense variant G/A;C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.720 1.000 8 2003 2016
dbSNP: rs45578238
rs45578238 		0.882 0.080 1 201361971 inframe deletion CTT/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 15 2000 2019
dbSNP: rs727503512
rs727503512 		0.851 0.080 1 201363349 missense variant G/A;C;T snv 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 5 2012 2013
dbSNP: rs397516464
rs397516464 		1 201364365 missense variant C/G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 4 2004 2014
dbSNP: rs397516471
rs397516471 		0.882 0.080 1 201363348 missense variant C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 4 2010 2017
dbSNP: rs45525839
rs45525839 		1 201364357 missense variant G/A;C;T snv 4.0E-06; 2.0E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 2 2008 2009
dbSNP: rs483352832
rs483352832 		1 201364327 missense variant G/A snv 3.2E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 2 2014 2016
dbSNP: rs730881097
rs730881097 		1 201363352 missense variant C/A snv 8.0E-06 2.1E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2005 2005
dbSNP: rs397516454
rs397516454 		1 201365610 missense variant A/C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs397516461
rs397516461 		1 201365220 missense variant C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs45586240
rs45586240 		0.827 0.080 1 201361989 missense variant G/A;T snv 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs876658027
rs876658027 		1 201365247 missense variant GA/AC mnv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0