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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.763 | 0.320 | 13 | 32363190 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 13 | 32363421 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.200 | 13 | 32376769 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.280 | 13 | 32380085 | stop gained | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
12 | 0.752 | 0.320 | 13 | 32394726 | stop gained | C/A;G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
11 | 0.763 | 0.320 | 13 | 32394814 | stop gained | C/T | snv | 1.2E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
8 | 0.807 | 0.280 | 13 | 32340301 | frameshift variant | T/- | del | 1.8E-04 | 0.700 | 0 | |||||||
|
10 | 0.763 | 0.320 | 13 | 32329468 | frameshift variant | GT/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.280 | 13 | 32398184 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.280 | 13 | 32326614 | splice donor variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.280 | 13 | 32326615 | splice donor variant | T/A;C;G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 13 | 32356455 | frameshift variant | -/TA | delins | 0.700 | 0 |