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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.160 | X | 154563577 | missense variant | G/A | snv | 0.710 | 1.000 | 9 | 2005 | 2015 | |||||
|
1 | 1.000 | 0.120 | X | 154552187 | missense variant | G/A | snv | 2.4E-05 | 1.0E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.120 | X | 154564372 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | X | 154564450 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | X | 154564451 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | X | 154564418 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | X | 154558590 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 154564408 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | X | 154562904 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 154561789 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 154556238 | inframe deletion | GAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 154558602 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | X | 154564361 | frameshift variant | -/C | delins | 0.700 | 0 |