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 | 2 | 44942853 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 155803595 | missense variant | G/C | snv | 8.8E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 7 | 155803493 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 155802982 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 155803416 | frameshift variant | GAGCCCGAGGACGCCTCGGGCTC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 155811980 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 7 | 155812032 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 7 | 155803481 | inframe deletion | GCGGCGGTGAGCAGCAGGCGC/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 7 | 155803149 | inframe deletion | GCGCGAAGG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 155811909 | stop gained | G/A;T | snv | 1.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 7 | 155803249 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 155803402 | missense variant | C/G | snv | 1.4E-05 | 0.700 | 0 |