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: 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: 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: 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: rs121964855
rs121964855 		0.851 0.080 1 201365638 missense variant 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 0.800 1.000 21 1994 2013
dbSNP: rs121964855
rs121964855 		0.851 0.080 1 201365638 missense variant A/T snv 4.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 8 1994 2008
dbSNP: rs121964855
rs121964855 		0.851 0.080 1 201365638 missense variant 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 8 1994 2013
dbSNP: rs121964855
rs121964855 		0.851 0.080 1 201365638 missense variant A/T snv 4.0E-06
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		Cardiovascular Diseases 0.700 1.000 8 1994 2013
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: 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: 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
dbSNP: rs121964856
rs121964856 		0.807 0.120 1 201365297 missense variant C/A;T snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1999 1999
dbSNP: rs121964856
rs121964856 		0.807 0.120 1 201365297 missense variant C/A;T snv
CUI: C3825201
Disease: Mitochondrial pathology
Mitochondrial pathology 		0.010 1.000 1 1999 1999
dbSNP: rs121964856
rs121964856 		0.807 0.120 1 201365297 missense variant C/A;T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs121964857
rs121964857 		0.851 0.080 1 201359245 missense variant G/A snv 3.6E-04 4.3E-04
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 13 1994 2012
dbSNP: rs121964857
rs121964857 		0.851 0.080 1 201359245 missense variant G/A snv 3.6E-04 4.3E-04
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2003 2003
dbSNP: rs121964857
rs121964857 		0.851 0.080 1 201359245 missense variant G/A snv 3.6E-04 4.3E-04
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.710 1.000 1 2003 2003
dbSNP: rs121964857
rs121964857 		0.851 0.080 1 201359245 missense variant G/A snv 3.6E-04 4.3E-04
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
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: rs121964858
rs121964858 		0.807 0.120 1 201365244 missense variant A/C;G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2000 2000
dbSNP: rs121964858
rs121964858 		0.807 0.120 1 201365244 missense variant A/C;G;T snv
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 1998 1998
dbSNP: rs121964858
rs121964858 		0.807 0.120 1 201365244 missense variant A/C;G;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 1998 1998
dbSNP: rs121964858
rs121964858 		0.807 0.120 1 201365244 missense variant A/C;G;T snv
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1998 1998