Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.200 | 17 | 43091771 | frameshift variant | -/A | delins | 0.700 | 1.000 | 3 | 1998 | 2013 | |||||
|
2 | 1.000 | 17 | 43099827 | frameshift variant | -/A | delins | 8.0E-06 | 0.700 | 1.000 | 3 | 2002 | 2018 | |||||
|
3 | 0.925 | 0.200 | 17 | 43099809 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.200 | 17 | 43092695 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 1997 | 1997 | ||||
|
3 | 0.925 | 0.200 | 17 | 43093487 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 1.000 | 17 | 43047646 | frameshift variant | -/A | ins | 0.700 | 0 | |||||||||
|
1 | 17 | 43070927 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.200 | 17 | 43071085 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 17 | 43094167 | frameshift variant | -/A | ins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 17 | 43099836 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 17 | 43071114 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 17 | 43091951 | frameshift variant | -/A | ins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 17 | 43094274 | frameshift variant | -/A | delins | 0.700 | 0 | |||||||||
|
3 | 0.925 | 0.200 | 17 | 43093638 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 17 | 43093184 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 17 | 43091769 | frameshift variant | -/A;AA | ins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 17 | 43091937 | frameshift variant | -/AA | delins | 0.700 | 0 | |||||||||
|
1 | 17 | 43093367 | frameshift variant | -/AAATTCTT | delins | 0.700 | 0 | ||||||||||
|
4 | 0.882 | 0.200 | 17 | 43093653 | frameshift variant | -/ACTA | delins | 0.700 | 1.000 | 3 | 2002 | 2016 | |||||
|
3 | 0.925 | 0.200 | 17 | 43092628 | frameshift variant | -/AG | delins | 0.700 | 1.000 | 3 | 2013 | 2014 | |||||
|
2 | 1.000 | 17 | 43090945 | frameshift variant | -/AG | delins | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 0.925 | 0.200 | 17 | 43092823 | frameshift variant | -/AT | delins | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 1.000 | 17 | 43094635 | frameshift variant | -/ATTC | delins | 0.700 | 0 | |||||||||
|
3 | 0.925 | 0.200 | 17 | 43074394 | frameshift variant | -/C | ins | 0.700 | 1.000 | 4 | 2003 | 2016 | |||||
|
4 | 0.882 | 0.200 | 17 | 43094390 | frameshift variant | -/C | delins | 0.700 | 1.000 | 3 | 2016 | 2018 |