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: 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: 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: rs730881119
rs730881119
1 201359629 frameshift variant -/G delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
Cardiovascular Diseases 0.700 0
dbSNP: rs1060500235
rs1060500235
1 201365657 missense variant T/C;G snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs121964856
rs121964856
0.807 0.120 1 201365297 missense variant C/A;T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs863225119
rs863225119
0.882 0.080 1 201359632 missense variant T/A snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
Cardiovascular Diseases 0.010 1.000 1 2011 2011