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 | 7670664 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7670673 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7670673 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7670675 | frameshift variant | TCAGCTCT/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 17 | 7670684 | missense variant | C/G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.160 | 17 | 7670685 | frameshift variant | GG/A;G | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 17 | 7670685 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7670694 | frameshift variant | -/A | ins | 0.700 | 0 | ||||||||
|
44 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
8 | 0.851 | 0.200 | 17 | 7670700 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7670706 | splice acceptor variant | CCCACGGATCTGCAGCAACAGAGGAGGGGGAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7670712 | frameshift variant | GG/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 7673534 | splice donor variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.240 | 17 | 7673552 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 7673579 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7673582 | frameshift variant | AGAGGAGCTG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7673595 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 17 | 7673609 | splice acceptor variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 17 | 7673610 | splice acceptor variant | T/C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.240 | 17 | 7673700 | splice donor variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.200 | 17 | 7673704 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7673711 | frameshift variant | -/CCCC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7673728 | frameshift variant | CGTGG/- | del | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.240 | 17 | 7673728 | stop gained | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 17 | 7673731 | inframe deletion | GAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGT/- | delins | 0.700 | 0 |