Source: ALL
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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.790 | 0.120 | X | 48792371 | missense variant | G/A | snv | 9.5E-06 | 0.800 | 1.000 | 8 | 1977 | 2013 | ||||
|
2 | 0.925 | 0.200 | X | 48792370 | missense variant | C/T | snv | 0.700 | 1.000 | 4 | 1986 | 2013 | |||||
|
6 | 0.827 | 0.120 | X | 48792377 | missense variant | A/G | snv | 0.700 | 1.000 | 3 | 2001 | 2007 | |||||
|
3 | 0.882 | 0.120 | X | 48792346 | missense variant | GG/TC | mnv | 0.700 | 1.000 | 2 | 2001 | 2007 | |||||
|
4 | 0.851 | 0.160 | X | 48792346 | missense variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2005 | 2008 | |||||
|
4 | 0.851 | 0.120 | X | 48792376 | missense variant | G/T | snv | 0.700 | 1.000 | 1 | 2002 | 2002 | |||||
|
9 | 0.776 | 0.120 | X | 48792337 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
2 | 0.925 | 0.120 | X | 48791111 | start lost | T/C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | X | 48791329 | missense variant | G/C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.120 | X | 48791329 | splice donor variant | G/- | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | X | 48793916 | missense variant | G/T | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 1.000 | 0.120 | X | 48794162 | stop lost | T/C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 |