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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 1 | 201359636 | missense variant | C/A;T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 1 | 201365286 | missense variant | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 1 | 201361971 | inframe deletion | CTT/- | delins |
|
Cardiovascular Diseases | 0.700 | 1.000 | 13 | 2000 | 2013 | ||||||||
|
0.882 | 0.080 | 1 | 201361988 | missense variant | C/A;G;T | snv |
|
Cardiovascular Diseases | 0.800 | 1.000 | 9 | 2000 | 2017 | ||||||||
|
0.882 | 0.080 | 1 | 201363348 | missense variant | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 4 | 2010 | 2013 | ||||||||
|
0.882 | 0.080 | 1 | 201363379 | missense variant | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 1 | 201359632 | missense variant | T/A | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.080 | 1 | 201364366 | missense variant | G/A;C | snv |
|
Cardiovascular Diseases | 0.800 | 1.000 | 14 | 2000 | 2017 | ||||||||
|
0.851 | 0.080 | 1 | 201363377 | inframe deletion | CTC/- | delins |
|
Cardiovascular Diseases | 0.700 | 1.000 | 9 | 1995 | 2016 | ||||||||
|
0.851 | 0.080 | 1 | 201365638 | missense variant | A/T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 8 | 1994 | 2013 | |||||||
|
0.851 | 0.080 | 1 | 201365291 | missense variant | C/A;T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 8 | 1991 | 2017 | ||||||||
|
0.851 | 0.080 | 1 | 201364369 | missense variant | G/A | snv | 1.4E-05 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 7 | 2003 | 2014 | |||||||
|
0.851 | 0.080 | 1 | 201365617 | missense variant | T/G | snv | 4.0E-06 | 7.0E-06 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 6 | 2003 | 2017 | ||||||
|
0.851 | 0.080 | 1 | 201359244 | missense variant | C/G;T | snv | 1.2E-05 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 6 | 2003 | 2014 | |||||||
|
0.851 | 0.080 | 1 | 201365261 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 5 | 1997 | 2017 | ||||||
|
0.851 | 0.080 | 1 | 201359216 | stop gained | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 4 | 2003 | 2013 | ||||||||
|
0.851 | 0.080 | 1 | 201363349 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 3 | 2012 | 2013 | |||||||
|
0.827 | 0.080 | 1 | 201364336 | missense variant | G/A;T | snv | 1.2E-04 |
|
Cardiovascular Diseases | 0.800 | 1.000 | 17 | 2000 | 2017 | |||||||
|
0.827 | 0.080 | 1 | 201365298 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 11 | 1994 | 2016 | ||||||
|
0.827 | 0.080 | 1 | 201363330 | missense variant | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 4 | 2000 | 2017 | ||||||||
|
0.827 | 0.080 | 1 | 201359217 | stop gained | C/A;T | snv | 4.1E-06 | 7.0E-06 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 4 | 2003 | 2013 | ||||||
|
0.827 | 0.080 | 1 | 201361989 | missense variant | G/A;T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 3 | 2009 | 2017 | |||||||
|
0.807 | 0.120 | 1 | 201365297 | missense variant | C/A;T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 18 | 1994 | 2015 | ||||||||
|
0.807 | 0.120 | 1 | 201365244 | missense variant | A/C;G;T | snv |
|
Cardiovascular Diseases | 0.700 | 0 |