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 | 178702186 | frameshift variant | CTGCCGTGCT/- | delins |
|
Cardiovascular Diseases | 0.700 | 1.000 | 5 | 2002 | 2012 | ||||||||||
|
0.925 | 0.160 | 2 | 178589849 | stop gained | G/A | snv | 7.6E-05 | 6.3E-05 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 4 | 2012 | 2019 | ||||||
|
2 | 178621517 | stop gained | G/A | snv | 7.0E-06 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 3 | 2012 | 2015 | |||||||||
|
0.882 | 0.160 | 2 | 178574530 | stop gained | G/A | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 3 | 2012 | 2016 | |||||||
|
1.000 | 0.040 | 2 | 178604049 | stop gained | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 3 | 2012 | 2015 | ||||||||
|
0.882 | 0.160 | 2 | 178605642 | stop gained | C/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 3 | 2012 | 2014 | ||||||||
|
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 | ||||||
|
0.925 | 0.160 | 2 | 178559309 | splice donor variant | A/T | snv | 4.4E-06 | 4.9E-05 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||||
|
0.925 | 0.160 | 2 | 178565416 | stop gained | G/A | snv | 8.0E-06 | 1.4E-05 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||||
|
2 | 178559769 | stop gained | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.080 | 2 | 178633900 | frameshift variant | -/C | ins |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
2 | 178618768 | stop gained | G/A;T | snv | 4.1E-05 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
2 | 178581650 | stop gained | G/T | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
2 | 178552313 | frameshift variant | T/- | delins |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||||
|
2 | 178552121 | frameshift variant | -/A | delins |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.160 | 2 | 178539765 | frameshift variant | CT/- | del | 2.1E-05 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.807 | 0.200 | 2 | 178579702 | stop gained | G/A;C | snv | 1.6E-05 | 3.5E-05 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 178547178 | frameshift variant | TCTT/- | delins |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 178557838 | frameshift variant | G/- | del |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.160 | 2 | 178589508 | stop gained | A/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.160 | 2 | 178573463 | frameshift variant | A/- | del |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
2 | 178564253 | frameshift variant | AA/- | delins |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 178718815 | stop gained | C/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.160 | 2 | 178613159 | splice donor variant | A/- | del | 1.6E-05 | 2.8E-05 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 178568710 | frameshift variant | -/G | delins |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 |