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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | X | 85879054 | missense variant | T/C | snv | 0.810 | 1.000 | 3 | 1994 | 2011 | |||||
|
1 | 1.000 | 0.080 | X | 85958965 | stop gained | G/A | snv | 0.710 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | X | 85958881 | stop gained | G/A | snv | 0.710 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | X | 86027490 | splice donor variant | C/A;T | snv | 0.700 | 1.000 | 4 | 1999 | 2006 | |||||
|
1 | 1.000 | 0.080 | X | 85878962 | splice donor variant | -/A | delins | 1.2E-05 | 0.700 | 1.000 | 1 | 1992 | 1992 | ||||
|
1 | 1.000 | 0.080 | X | 86047532 | start lost | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 85900700 | stop gained | GG/TC | mnv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 85894214 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 85894227 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 85957918 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 85894201 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 85978801 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 85957977 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 85958872 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 85878987 | frameshift variant | ACAA/- | delins | 9.5E-06 | 0.700 | 0 |