TNNI3, troponin I3, cardiac type, 7137

N. diseases: 159; N. variants: 50
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: rs267607129
rs267607129
0.925 0.040 19 55151912 missense variant G/C snv
CUI: C2750091
Disease: Cardiomyopathy, Dilated, 1FF
Cardiomyopathy, Dilated, 1FF
Cardiovascular Diseases 0.800 1.000 2 2009 2012
dbSNP: rs267607130
rs267607130
0.925 0.040 19 55157052 missense variant T/G snv
CUI: C2750091
Disease: Cardiomyopathy, Dilated, 1FF
Cardiomyopathy, Dilated, 1FF
Cardiovascular Diseases 0.800 1.000 2 2009 2012
dbSNP: rs397516354
rs397516354
0.790 0.120 19 55154094 missense variant C/A;G;T snv 4.0E-05
CUI: C2750091
Disease: Cardiomyopathy, Dilated, 1FF
Cardiomyopathy, Dilated, 1FF
Cardiovascular Diseases 0.700 1.000 5 2003 2012
dbSNP: rs777177571
rs777177571
1.000 0.040 19 55154766 missense variant G/C snv 1.6E-05 2.1E-05
CUI: C2750091
Disease: Cardiomyopathy, Dilated, 1FF
Cardiomyopathy, Dilated, 1FF
Cardiovascular Diseases 0.700 1.000 2 2009 2012
dbSNP: rs397516349
rs397516349
0.807 0.080 19 55154145 missense variant C/T snv 1.6E-05
CUI: C2750091
Disease: Cardiomyopathy, Dilated, 1FF
Cardiomyopathy, Dilated, 1FF
Cardiovascular Diseases 0.700 0
dbSNP: rs727503504
rs727503504
0.807 0.080 19 55154071 missense variant G/A;C snv
CUI: C2750091
Disease: Cardiomyopathy, Dilated, 1FF
Cardiomyopathy, Dilated, 1FF
Cardiovascular Diseases 0.700 0