| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
58 | 0.701 | 0.520 | 18 | 33740444 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 18 | 33739364 | frameshift variant | -/C | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 18 | 33738875 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 18 | 33743212 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
3 | 0.925 | 0.080 | 18 | 33742954 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 18 | 33738755 | stop gained | C/A;T | snv | 1.2E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 18 | 33738825 | frameshift variant | -/T | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 18 | 33738851 | frameshift variant | -/T | delins | 0.700 | 0 | |||||||||
|
3 | 0.925 | 18 | 33739379 | frameshift variant | GACA/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 18 | 33743920 | frameshift variant | GTCTTGATTCCCCC/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 18 | 33743992 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 18 | 33744178 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
8 | 0.827 | 0.240 | 18 | 33738903 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 18 | 33738614 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 18 | 33738800 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 18 | 33738592 | frameshift variant | ACAG/- | delins | 0.700 | 0 | |||||||||
|
5 | 0.882 | 0.160 | 18 | 33739086 | stop gained | C/A | snv | 0.700 | 0 |