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 | 0.320 | X | 133753628 | missense variant | A/T | snv | 0.800 | 1.000 | 1 | 2000 | 2000 | |||||
|
2 | 0.925 | 0.440 | X | 133753919 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | X | 67686093 | missense variant | C/T | snv | 5.5E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.440 | X | 133699902 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | X | 133753540 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | X | 133536201 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.320 | 9 | 2640759 | intron variant | A/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.320 | X | 133596519 | stop gained | G/A;T | snv | 9.8E-05 | 4.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.320 | X | 133953181 | frameshift variant | CCCTTAGGGAGAC/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | X | 133692368 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.320 | X | 133953049 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.360 | X | 133536175 | frameshift variant | A/- | delins | 0.700 | 0 |