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 | 0.120 | 7 | 94424443 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94425163 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94413922 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 7 | 94424363 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94422967 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 7 | 94412593 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94420233 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94415245 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 7 | 94413083 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.240 | 17 | 50196172 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94411066 | missense variant | G/A | 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 | ||||||||
|
9 | 0.763 | 0.240 | 7 | 94409768 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 50190334 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.240 | 7 | 94410457 | missense variant | G/A;T | 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 |