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: 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: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
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: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		Cardiovascular Diseases 0.700 0
dbSNP: rs121964861
rs121964861 		1.000 0.040 1 201359636 missense variant C/A;T snv
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		Cardiovascular Diseases 0.700 0
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: rs1558225569
rs1558225569 		0.882 0.080 1 201363379 missense variant C/T snv
CUI: C1832243
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder)
CARDIOMYOPATHY, DILATED, 1D (disorder) 		Cardiovascular Diseases 0.700 0
dbSNP: rs1558225569
rs1558225569 		0.882 0.080 1 201363379 missense variant C/T snv
CUI: C2676271
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 		Cardiovascular Diseases 0.700 0
dbSNP: rs1558225569
rs1558225569 		0.882 0.080 1 201363379 missense variant C/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: rs397516454
rs397516454 		1 201365610 missense variant A/C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs397516461
rs397516461 		1 201365220 missense variant C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs397516465
rs397516465 		1.000 0.040 1 201364342 missense variant G/A;T snv 4.0E-06
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs397516482
rs397516482 		1.000 0.080 1 201361286 missense variant T/A snv 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs397516484
rs397516484 		0.851 0.080 1 201359244 missense variant C/G;T snv 1.2E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs45466197
rs45466197 		1.000 0.080 1 201361327 missense variant C/A snv 2.2E-04 7.0E-05
CUI: C1861864
Disease: Cardiomyopathy, Familial Hypertrophic, 2
Cardiomyopathy, Familial Hypertrophic, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs45586240
rs45586240 		0.827 0.080 1 201361989 missense variant G/A;T snv 4.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs45586240
rs45586240 		0.827 0.080 1 201361989 missense variant G/A;T snv 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0
dbSNP: rs727503513
rs727503513 		0.925 0.080 1 201365292 missense variant G/A 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: rs727504247
rs727504247 		0.827 0.080 1 201359217 stop gained C/A;T snv 4.1E-06 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs727504277
rs727504277 		1.000 0.040 1 201365284 inframe deletion TCC/- delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		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: rs727504488
rs727504488 		1.000 0.040 1 201361305 missense variant C/T snv
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs730881115
rs730881115 		1.000 0.080 1 201364336 frameshift variant G/- delins 9.1E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs730881119
rs730881119 		1 201359629 frameshift variant -/G delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs730881122
rs730881122 		1.000 0.040 1 201365295 missense variant T/G snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 0