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: rs1289914935
rs1289914935 		1.000 0.080 1 201373252 start lost C/A;T snv 4.0E-06; 4.0E-06
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
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: 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: 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: 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: rs200754249
rs200754249 		0.851 0.080 1 201368212 missense variant G/A;T snv 4.5E-04; 4.0E-06
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs727503513
rs727503513 		0.925 0.080 1 201365292 missense variant G/A snv
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 1999 1999
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: 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: rs730881120
rs730881120 		1.000 0.040 1 201368162 stop gained C/A;T snv 4.0E-06; 4.0E-06
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2011 2011
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: 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: 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: rs45501500
rs45501500 		0.925 0.040 1 201363390 missense variant C/T snv
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs45586240
rs45586240 		0.827 0.080 1 201361989 missense variant G/A;T snv 4.0E-06
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
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: 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: 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: 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: 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: 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