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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
36 | 0.695 | 0.440 | 16 | 4800548 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
35 | 0.701 | 0.400 | 16 | 4798593 | frameshift variant | G/-;GGG | delins | 3.5E-05 | 0.700 | 0 | |||||||
|
17 | 0.708 | 0.640 | 10 | 121515280 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
18 | 0.716 | 0.400 | 4 | 1804372 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
9 | 0.776 | 0.160 | 17 | 10656089 | splice donor variant | C/T | snv | 1.2E-03 | 0.700 | 0 | |||||||
|
8 | 0.790 | 0.320 | 13 | 38851093 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
14 | 0.807 | 0.280 | 21 | 37480785 | stop gained | -/A | delins | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.120 | 17 | 10633590 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.827 | 0.200 | 3 | 48590258 | stop gained | G/A | snv | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
10 | 0.851 | 0.160 | 17 | 7403143 | frameshift variant | CACTCAGAGCCTGGTAGTAAAA/- | del | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.160 | 6 | 121447333 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.120 | 3 | 48567190 | missense variant | C/A;T | snv | 0.700 | 0 |