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: 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: rs45466197
rs45466197 		1.000 0.080 1 201361327 missense variant C/A snv 2.2E-04 7.0E-05
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs111344408
rs111344408 		1.000 0.040 1 201363407 splice acceptor variant C/A;G snv
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs111377893
rs111377893 		0.925 0.080 1 201359622 splice donor variant C/A;G;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 9 1994 2011
dbSNP: rs121964860
rs121964860 		0.882 0.080 1 201361988 missense variant C/A;G;T snv
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		Cardiovascular Diseases 0.800 1.000 9 2000 2017
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: rs121964860
rs121964860 		0.882 0.080 1 201361988 missense variant C/A;G;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 1 2015 2015
dbSNP: rs121964860
rs121964860 		0.882 0.080 1 201361988 missense variant C/A;G;T snv
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		Cardiovascular Diseases 0.700 1.000 1 2015 2015
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: 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: rs111377893
rs111377893 		0.925 0.080 1 201359622 splice donor variant C/A;G;T snv
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs121964856
rs121964856 		0.807 0.120 1 201365297 missense variant C/A;T 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 29 1994 2015
dbSNP: rs397516457
rs397516457 		0.851 0.080 1 201365291 missense variant C/A;T 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 20 1991 2017
dbSNP: rs121964856
rs121964856 		0.807 0.120 1 201365297 missense variant C/A;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.730 1.000 18 1994 2020
dbSNP: rs121964856
rs121964856 		0.807 0.120 1 201365297 missense variant C/A;T snv
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		Cardiovascular Diseases 0.700 1.000 18 1994 2015
dbSNP: rs121964856
rs121964856 		0.807 0.120 1 201365297 missense variant C/A;T snv
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		Cardiovascular Diseases 0.700 1.000 18 1994 2015
dbSNP: rs397516457
rs397516457 		0.851 0.080 1 201365291 missense variant C/A;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.710 1.000 12 1999 2017
dbSNP: rs397516457
rs397516457 		0.851 0.080 1 201365291 missense variant C/A;T snv
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		Cardiovascular Diseases 0.700 1.000 8 1991 2017
dbSNP: rs397516457
rs397516457 		0.851 0.080 1 201365291 missense variant C/A;T snv
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		Cardiovascular Diseases 0.700 1.000 8 1991 2017
dbSNP: rs727504247
rs727504247 		0.827 0.080 1 201359217 stop gained C/A;T snv 4.1E-06 7.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 4 2003 2013
dbSNP: rs727504247
rs727504247 		0.827 0.080 1 201359217 stop gained C/A;T snv 4.1E-06 7.0E-06
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		Cardiovascular Diseases 0.700 1.000 4 2003 2013
dbSNP: rs727504247
rs727504247 		0.827 0.080 1 201359217 stop gained C/A;T snv 4.1E-06 7.0E-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 4 2003 2013
dbSNP: rs727504247
rs727504247 		0.827 0.080 1 201359217 stop gained C/A;T snv 4.1E-06 7.0E-06
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		Cardiovascular Diseases 0.700 1.000 4 2003 2013
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: rs121964856
rs121964856 		0.807 0.120 1 201365297 missense variant C/A;T snv
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 1997 1997