TNNT2, troponin T2, cardiac type, 7139

N. diseases: 79; N. variants: 73
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: 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: 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: rs1060500235
rs1060500235 		1 201365657 missense variant T/C;G snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3020556
rs3020556 		1 201373987 non coding transcript exon variant C/A;G;T snv
CUI: C0523953
Disease: Cardiac troponin T measurement
Cardiac troponin T measurement 		0.700 1.000 1 2013 2013
dbSNP: rs6663175
rs6663175 		1 201372722 intron variant C/T snv 2.7E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
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: rs730881119
rs730881119 		1 201359629 frameshift variant -/G delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		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
dbSNP: rs397516459
rs397516459 		1.000 0.040 1 201365281 missense variant C/A;T snv 4.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 3 2004 2011
dbSNP: rs3729547
rs3729547 		1.000 0.040 1 201365254 missense variant G/A;C snv 0.72
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.020 1.000 2 2013 2015
dbSNP: rs3729843
rs3729843 		0.925 0.040 1 201367856 intron variant C/A;G;T snv 1.8E-04; 0.42
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.020 1.000 2 2013 2014
dbSNP: rs727504255
rs727504255 		1.000 0.040 1 201365630 missense variant C/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2008 2009
dbSNP: rs12564445
rs12564445 		0.851 0.040 1 201376359 intron variant G/A snv 0.27
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs12564445
rs12564445 		0.851 0.040 1 201376359 intron variant G/A snv 0.27
CUI: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs12564445
rs12564445 		0.851 0.040 1 201376359 intron variant G/A snv 0.27
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs12564445
rs12564445 		0.851 0.040 1 201376359 intron variant G/A snv 0.27
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs12564445
rs12564445 		0.851 0.040 1 201376359 intron variant G/A snv 0.27
CUI: C0523953
Disease: Cardiac troponin T measurement
Cardiac troponin T measurement 		0.800 1.000 1 2013 2013
dbSNP: rs1289010014
rs1289010014 		1.000 0.040 1 201359623 missense variant A/G snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs141121678
rs141121678 		1.000 0.040 1 201359220 missense variant C/A;T snv 4.1E-06; 6.2E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs141754300
rs141754300 		0.925 0.040 1 201364349 missense variant C/A snv 8.0E-06
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs141754300
rs141754300 		0.925 0.040 1 201364349 missense variant C/A snv 8.0E-06
CUI: C0442887
Disease: Septal hypertrophy
Septal hypertrophy 		0.010 1.000 1 2016 2016
dbSNP: rs1892028
rs1892028 		1.000 0.040 1 201367513 non coding transcript exon variant G/A snv 0.53
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2013 2013