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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.724 | 0.400 | 17 | 7674238 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
28 | 0.662 | 0.560 | 17 | 7674229 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 17 | 7676011 | stop gained | T/A;C;G | snv | 0.700 | 0 | ||||||||
|
44 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
34 | 0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 | 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 | 7675997 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
25 | 0.677 | 0.480 | 17 | 7675089 | missense variant | G/A;C | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
17 | 0.724 | 0.360 | 17 | 7675124 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 17 | 7673795 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 17 | 7673838 | splice acceptor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 7674180 | splice donor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 7674292 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7675064 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7675115 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7675989 | splice region variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7676176 | stop gained | T/A;G | snv | 0.700 | 0 | ||||||||
|
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 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7670694 | frameshift variant | -/A | ins | 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 | 7673579 | frameshift variant | G/- | delins | 0.700 | 0 |