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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.080 | 19 | 11123200 | stop gained | G/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 19 | 11113584 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 11102706 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 11107479 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 19 | 11105245 | frameshift variant | TTTCG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 11105275 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 19 | 11120123 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 19 | 11105372 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 11089381 | upstream gene variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 11089394 | upstream gene variant | ACCCCA/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 11089422 | upstream gene variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 11089450 | upstream gene variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 11102675 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 11102715 | frameshift variant | -/TGCATTC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 11105233 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 19 | 11105516 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 19 | 11105564 | frameshift variant | -/CGACTGC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 11105579 | frameshift variant | AATCTGACGA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 11105583 | frameshift variant | ACGAGGAAAACTG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 11105570 | frameshift variant | -/CAAGGACAAATCTGACG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 11106653 | stop gained | C/A;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 19 | 11107498 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 19 | 11107510 | splice donor variant | GGTGAGTCTCGGTGC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 11107513 | splice donor variant | -/G | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 19 | 11113277 | splice acceptor variant | G/- | delins | 0.700 | 0 |