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: 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: rs397516463
rs397516463 		0.851 0.080 1 201364369 missense variant G/A snv 1.4E-05
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 19 1994 2014
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: 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: rs121964858
rs121964858 		0.807 0.120 1 201365244 missense variant A/C;G;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 14 1994 2012
dbSNP: rs74315380
rs74315380 		0.851 0.080 1 201364366 missense variant G/A;C snv
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		Cardiovascular Diseases 0.800 1.000 14 2000 2017
dbSNP: rs45578238
rs45578238 		0.882 0.080 1 201361971 inframe deletion CTT/- delins
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 13 2000 2013
dbSNP: rs45578238
rs45578238 		0.882 0.080 1 201361971 inframe deletion CTT/- delins
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		Cardiovascular Diseases 0.700 1.000 13 2000 2013
dbSNP: rs45578238
rs45578238 		0.882 0.080 1 201361971 inframe deletion CTT/- delins
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		Cardiovascular Diseases 0.700 1.000 13 2000 2013
dbSNP: rs886039053
rs886039053 		1.000 0.080 1 201365666 missense variant A/G 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 13 1994 2012
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: rs397516463
rs397516463 		0.851 0.080 1 201364369 missense variant G/A snv 1.4E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 12 1996 2017
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: rs397516470
rs397516470 		0.851 0.080 1 201363377 inframe deletion CTC/- delins
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 9 1995 2016
dbSNP: rs397516470
rs397516470 		0.851 0.080 1 201363377 inframe deletion CTC/- delins
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		Cardiovascular Diseases 0.700 1.000 9 1995 2016
dbSNP: rs397516470
rs397516470 		0.851 0.080 1 201363377 inframe deletion CTC/- delins
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		Cardiovascular Diseases 0.700 1.000 9 1995 2016
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: rs397516470
rs397516470 		0.851 0.080 1 201363377 inframe deletion CTC/- delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 8 1995 2012
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: rs397516463
rs397516463 		0.851 0.080 1 201364369 missense variant G/A snv 1.4E-05
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		Cardiovascular Diseases 0.700 1.000 7 2003 2014