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 | 103786691 | missense variant | C/T | snv | 0.800 | 1.000 | 10 | 1994 | 2014 | |||||
|
1 | 1.000 | 0.080 | X | 103787904 | missense variant | T/C | snv | 0.800 | 1.000 | 10 | 1994 | 2014 | |||||
|
1 | 1.000 | 0.080 | X | 103786661 | missense variant | C/T | snv | 0.700 | 1.000 | 10 | 1994 | 2014 | |||||
|
1 | 1.000 | 0.080 | X | 103786726 | splice acceptor variant | G/A | snv | 0.700 | 1.000 | 3 | 1995 | 2006 | |||||
|
2 | 0.925 | 0.120 | X | 103786707 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 1997 | 1997 | |||||
|
2 | 0.925 | 0.120 | X | 103785717 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | X | 103786638 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 103789346 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 103787853 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 103786688 | frameshift variant | TGTC/AGT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 103790581 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | X | 103789373 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | X | 103776997 | start lost | T/C;G | snv | 0.700 | 0 |