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 | 17 | 50189208 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50199589 | splice acceptor variant | CT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50199329 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50198459 | stop gained | C/A;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 17 | 50197065 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94410478 | missense variant | C/A;G | snv | 5.1E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 7 | 94417733 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94425655 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94427004 | splice acceptor variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94427639 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94427714 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94408220 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94409374 | inframe deletion | GTG/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 50197027 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 17 | 50196670 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.240 | 17 | 50196163 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50195433 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 50192807 | frameshift variant | GGGG/-;GGG | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 50191454 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 50188765 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 17 | 50187486 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 7 | 94409367 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 7 | 94418518 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 7 | 94423056 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 7 | 94425127 | missense variant | G/A | snv | 0.700 | 0 |