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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.790 | 0.240 | 17 | 50196172 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.240 | 17 | 50195231 | splice donor variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.240 | 17 | 50192993 | splice donor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 7 | 94412122 | splice donor variant | G/A;C | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
7 | 0.790 | 0.240 | 17 | 50190578 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.240 | 17 | 50196163 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.240 | 17 | 50195288 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.240 | 17 | 50191826 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.752 | 0.240 | 17 | 50188908 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 7 | 94395818 | intron variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 7 | 94428367 | stop gained | G/A;T | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 17 | 50198506 | splice acceptor variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 17 | 50198505 | splice acceptor variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 17 | 50198433 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 4 | 73404398 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 7 | 94404567 | frameshift variant | -/C | delins | 0.700 | 0 |