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 | 0.882 | 0.120 | 10 | 93758280 | missense variant | T/C | snv | 0.810 | 1.000 | 10 | 2002 | 2009 | |||||
|
1 | 1.000 | 0.120 | 10 | 93793207 | missense variant | T/C | snv | 0.800 | 1.000 | 10 | 2002 | 2009 | |||||
|
1 | 1.000 | 0.120 | 10 | 93797082 | missense variant | T/G | snv | 0.800 | 1.000 | 10 | 2002 | 2009 | |||||
|
1 | 1.000 | 0.120 | 10 | 93797285 | stop gained | -/AATAGTCAGAA | delins | 0.700 | 1.000 | 3 | 2002 | 2008 | |||||
|
1 | 1.000 | 0.120 | 10 | 93758268 | missense variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.120 | 10 | 93793270 | frameshift variant | C/- | del | 0.700 | 1.000 | 2 | 2002 | 2003 | |||||
|
1 | 1.000 | 0.120 | 10 | 93797549 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2002 | 2004 | |||||
|
1 | 1.000 | 0.120 | 10 | 93792742 | splice acceptor variant | G/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.120 | 10 | 93797547 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.120 | 10 | 93797142 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 10 | 93797257 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 93793200 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 10 | 93777592 | missense variant | C/T | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 10 | 93777551 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 93797385 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 93777572 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 10 | 93797277 | missense variant | A/C | snv | 0.700 | 0 |