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: C3825201
Disease: Mitochondrial pathology
Mitochondrial pathology 		0.010 1.000 1 1999 1999
dbSNP: rs12564445
rs12564445 		0.851 0.040 1 201376359 intron variant G/A snv 0.27
CUI: C0523953
Disease: Cardiac troponin T measurement
Cardiac troponin T measurement 		0.800 1.000 1 2013 2013
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
dbSNP: rs200754249
rs200754249 		0.851 0.080 1 201368212 missense variant G/A;T snv 4.5E-04; 4.0E-06
CUI: C0442887
Disease: Septal hypertrophy
Septal hypertrophy 		0.010 1.000 1 2016 2016
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: rs6663175
rs6663175 		1 201372722 intron variant C/T snv 2.7E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
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: 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: 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: 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: 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: 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: 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: 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: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		Cardiovascular Diseases 0.700 1.000 10 2001 2015
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