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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.160 | 2 | 178528273 | splice donor variant | C/G;T | snv | 1.2E-05 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
2 | 178528524 | splice donor variant | ACTGGCAGGTTGTTTTTAAACCATTCGATT/- | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
2 | 178529122 | frameshift variant | T/- | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
2 | 178532605 | stop gained | G/A;T | snv | 2.0E-05; 4.0E-06 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||||
|
2 | 178533013 | frameshift variant | TCTC/- | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
2 | 178533666 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
2 | 178534619 | stop gained | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
0.827 | 0.240 | 2 | 178535508 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 2 | 178535516 | frameshift variant | -/A | ins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
2 | 178535593 | frameshift variant | CT/- | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
2 | 178536302 | stop gained | G/T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
2 | 178537079 | frameshift variant | AGACA/- | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
2 | 178537244 | splice acceptor variant | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
0.925 | 0.160 | 2 | 178538835 | frameshift variant | T/- | delins | 4.2E-06 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
2 | 178538945 | splice donor variant | C/G;T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
0.925 | 0.160 | 2 | 178539537 | stop gained | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
2 | 178539559 | stop gained | G/A | snv | 8.0E-06 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 2 | 178539765 | frameshift variant | CT/- | del | 2.1E-05 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 178539796 | frameshift variant | -/GTTT | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
2 | 178539931 | stop gained | C/A | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
0.925 | 0.160 | 2 | 178542263 | splice donor variant | C/G;T | snv | 4.2E-06 |
|
Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
2 | 178543512 | frameshift variant | -/T | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
2 | 178543876 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
2 | 178544263 | frameshift variant | T/- | delins |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||||||
|
2 | 178545818 | splice donor variant | CTGA/- | delins |
|
Cardiovascular Diseases | 0.700 | 0 |