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: 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: rs376923877
rs376923877 		1.000 0.040 1 201359637 missense variant G/A;T snv 8.9E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs727503512
rs727503512 		0.851 0.080 1 201363349 missense variant G/A;C;T snv 4.0E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
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: rs727503512
rs727503512 		0.851 0.080 1 201363349 missense variant G/A;C;T snv 4.0E-06
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		Cardiovascular Diseases 0.700 1.000 3 2012 2013
dbSNP: rs727503512
rs727503512 		0.851 0.080 1 201363349 missense variant G/A;C;T snv 4.0E-06
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		Cardiovascular Diseases 0.700 1.000 3 2012 2013
dbSNP: rs727503512
rs727503512 		0.851 0.080 1 201363349 missense variant G/A;C;T snv 4.0E-06
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 3 2012 2013
dbSNP: rs200754249
rs200754249 		0.851 0.080 1 201368212 missense variant G/A;T snv 4.5E-04; 4.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3729842
rs3729842 		1.000 0.040 1 201368042 intron variant A/G snv 0.84
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3729843
rs3729843 		0.925 0.040 1 201367856 intron variant C/A;G;T snv 1.8E-04; 0.42
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
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: 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: rs730881120
rs730881120 		1.000 0.040 1 201368162 stop gained C/A;T snv 4.0E-06; 4.0E-06
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2011 2011
dbSNP: rs863225119
rs863225119 		0.882 0.080 1 201359632 missense variant T/A snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs863225119
rs863225119 		0.882 0.080 1 201359632 missense variant T/A snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs863225119
rs863225119 		0.882 0.080 1 201359632 missense variant T/A snv
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 1 2011 2011
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: rs397516471
rs397516471 		0.882 0.080 1 201363348 missense variant C/T snv
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		Cardiovascular Diseases 0.700 1.000 4 2010 2013
dbSNP: rs397516471
rs397516471 		0.882 0.080 1 201363348 missense variant C/T snv
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		Cardiovascular Diseases 0.700 1.000 4 2010 2013
dbSNP: rs397516471
rs397516471 		0.882 0.080 1 201363348 missense variant C/T snv
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 4 2010 2013
dbSNP: rs45586240
rs45586240 		0.827 0.080 1 201361989 missense variant G/A;T snv 4.0E-06
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		Cardiovascular Diseases 0.700 1.000 3 2009 2017
dbSNP: rs45586240
rs45586240 		0.827 0.080 1 201361989 missense variant G/A;T snv 4.0E-06
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 3 2009 2017
dbSNP: rs45586240
rs45586240 		0.827 0.080 1 201361989 missense variant G/A;T snv 4.0E-06
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		Cardiovascular Diseases 0.700 1.000 3 2009 2017
dbSNP: rs45501500
rs45501500 		0.925 0.040 1 201363390 missense variant C/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs45501500
rs45501500 		0.925 0.040 1 201363390 missense variant C/T snv
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2009 2009