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 | 0.120 | 7 | 94426514 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 7 | 94417796 | missense variant | G/T | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.120 | 7 | 94415263 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 7 | 94410466 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
|
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 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 50195441 | missense 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 | ||||||||
|
1 | 1.000 | 17 | 50195575 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 17 | 50197948 | splice donor variant | C/G;T | snv | 0.700 | 0 | |||||||||
|
3 | 0.882 | 0.120 | 7 | 94408798 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.240 | 7 | 94410457 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.240 | 17 | 50194375 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 7 | 94427663 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.240 | 17 | 50190578 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 17 | 50191814 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
|
7 | 0.790 | 0.240 | 17 | 50195288 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 17 | 50192825 | inframe deletion | GCC/- | del | 0.700 | 0 | |||||||||
|
10 | 0.752 | 0.240 | 17 | 50188908 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 17 | 50188565 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 17 | 50188556 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
|
3 | 0.882 | 0.120 | 7 | 94406286 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 7 | 94407856 | missense variant | G/C | snv | 0.700 | 0 |