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: rs397516456
rs397516456 		0.827 0.080 1 201365298 missense variant G/A snv 4.0E-06 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 22 1994 2016
dbSNP: rs397516456
rs397516456 		0.827 0.080 1 201365298 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.710 1.000 22 1996 2016
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: 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: rs397516484
rs397516484 		0.851 0.080 1 201359244 missense variant C/G;T snv 1.2E-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: rs74315379
rs74315379 		0.827 0.080 1 201364336 missense variant G/A;T snv 1.2E-04
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		Cardiovascular Diseases 0.800 1.000 17 2000 2017
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: rs367785431
rs367785431 		1.000 0.080 1 201359221 missense variant G/A;T snv 2.5E-05 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 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: 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: rs200754249
rs200754249 		0.851 0.080 1 201368212 missense variant G/A;T snv 4.5E-04; 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 13 1994 2012
dbSNP: rs74315379
rs74315379 		0.827 0.080 1 201364336 missense variant G/A;T snv 1.2E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.720 1.000 13 2001 2016
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: rs74315379
rs74315379 		0.827 0.080 1 201364336 missense variant G/A;T snv 1.2E-04
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 12 2001 2013
dbSNP: rs397516456
rs397516456 		0.827 0.080 1 201365298 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		Cardiovascular Diseases 0.700 1.000 11 1994 2016
dbSNP: rs397516456
rs397516456 		0.827 0.080 1 201365298 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		Cardiovascular Diseases 0.700 1.000 11 1994 2016
dbSNP: rs74315379
rs74315379 		0.827 0.080 1 201364336 missense variant G/A;T snv 1.2E-04
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 10 2001 2015
dbSNP: rs74315379
rs74315379 		0.827 0.080 1 201364336 missense variant G/A;T snv 1.2E-04
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		Cardiovascular Diseases 0.700 1.000 10 2001 2015