TTN-AS1, TTN antisense RNA 1, 100506866
N. diseases: 78; N. variants: 567
Source: CLINVAR ×
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 178559769 | stop gained | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.160 | 2 | 178528273 | splice donor variant | C/G;T | snv | 1.2E-05 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
2 | 178538945 | splice donor variant | C/G;T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
1.000 | 0.040 | 2 | 178630250 | stop gained | G/A | snv | 8.1E-06 | 1.4E-05 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2012 | 2014 | ||||||
|
2 | 178740175 | frameshift variant | G/- | delins | 4.0E-06 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||||
|
2 | 178528524 | splice donor variant | ACTGGCAGGTTGTTTTTAAACCATTCGATT/- | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
2 | 178564611 | frameshift variant | G/- | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
1.000 | 0.040 | 2 | 178570586 | stop gained | G/T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
2 | 178570689 | frameshift variant | C/- | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
2 | 178572745 | frameshift variant | C/- | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
2 | 178609440 | frameshift variant | T/- | del |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
0.925 | 0.040 | 2 | 178616928 | frameshift variant | T/- | del |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
2 | 178633304 | frameshift variant | -/T | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 2 | 178633900 | frameshift variant | -/C | ins |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.160 | 2 | 178572564 | frameshift variant | G/- | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
2 | 178621183 | stop gained | T/A;C | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
2 | 178578078 | stop gained | C/A;T | snv | 3.3E-04 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||||
|
2 | 178689897 | splice acceptor variant | C/T | snv | 3.4E-04 | 4.7E-04 |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
2 | 178620285 | stop gained | G/A;T | snv | 4.9E-06 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||||
|
2 | 178588700 | stop gained | G/A;T | snv | 4.0E-06; 8.0E-06 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 2 | 178578066 | stop gained | G/A;T | snv | 4.0E-06; 5.6E-05 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 2 | 178617388 | stop gained | G/A;T | snv | 3.2E-05 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
2 | 178635714 | frameshift variant | T/- | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
2 | 178629361 | frameshift variant | G/- | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
2 | 178621517 | stop gained | G/A | snv | 7.0E-06 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 3 | 2012 | 2015 |