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 | ||||||||
|
2 | 1.000 | 0.120 | 17 | 50185866 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50185779 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.240 | 17 | 50195231 | splice donor variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
31 | 0.763 | 0.240 | 17 | 50193038 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.240 | 17 | 50192993 | splice donor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 50190334 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.240 | 17 | 50190578 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 50196651 | missense variant | C/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 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 50195099 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 50194365 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 50194005 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.240 | 17 | 50191826 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 17 | 50191462 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 50191408 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 50191390 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 50190869 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 50190027 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 50190008 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 50189867 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 50189520 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 50189430 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 50189009 | missense variant | C/A | snv | 0.700 | 0 |