TNNT2, troponin T2, cardiac type, 7139

N. diseases: 79; N. variants: 73
Disease: Cardiomyopathy, Familial Idiopathic ×
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: rs3729547
rs3729547 		1.000 0.040 1 201365254 missense variant G/A;C snv 0.72
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.020 1.000 2 2013 2015
dbSNP: rs3729843
rs3729843 		0.925 0.040 1 201367856 intron variant C/A;G;T snv 1.8E-04; 0.42
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.020 1.000 2 2013 2014
dbSNP: rs74315379
rs74315379 		0.827 0.080 1 201364336 missense variant G/A;T snv 1.2E-04
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.020 1.000 2 2003 2016
dbSNP: rs74315380
rs74315380 		0.851 0.080 1 201364366 missense variant G/A;C snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.020 1.000 2 2003 2016
dbSNP: rs1892028
rs1892028 		1.000 0.040 1 201367513 non coding transcript exon variant G/A snv 0.53
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs727503512
rs727503512 		0.851 0.080 1 201363349 missense variant G/A;C;T snv 4.0E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
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: rs730881106
rs730881106 		1.000 0.040 1 201362016 missense variant G/A snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs759758840
rs759758840 		1.000 0.040 1 201365198 missense variant T/A;C snv 4.0E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs778730615
rs778730615 		1.000 0.040 1 201368194 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs984218824
rs984218824 		1.000 0.040 1 201364324 missense variant C/T snv 4.0E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2014 2014