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: rs730881119
rs730881119 		1 201359629 frameshift variant -/G delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs727504331
rs727504331 		0.925 0.080 1 201365242 missense variant A/C snv 8.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2003 2008
dbSNP: rs730881098
rs730881098 		0.882 0.040 1 201365613 missense variant A/C snv
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs730881098
rs730881098 		0.882 0.040 1 201365613 missense variant A/C snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs730881098
rs730881098 		0.882 0.040 1 201365613 missense variant A/C snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs397516454
rs397516454 		1 201365610 missense variant A/C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs727504331
rs727504331 		0.925 0.080 1 201365242 missense variant A/C snv 8.0E-06
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
dbSNP: rs121964858
rs121964858 		0.807 0.120 1 201365244 missense variant A/C;G;T snv
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		Cardiovascular Diseases 0.700 0
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: 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: 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: rs970498944
rs970498944 		0.925 0.040 1 201373235 missense variant A/G snv 7.0E-06
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs970498944
rs970498944 		0.925 0.040 1 201373235 missense variant A/G snv 7.0E-06
CUI: C0442887
Disease: Septal hypertrophy
Septal hypertrophy 		0.010 1.000 1 2016 2016
dbSNP: rs863225120
rs863225120 		1.000 0.080 1 201361970 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 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: 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