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 | 0.240 | 9 | 21974219 | intron variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
34 | 0.641 | 0.440 | 17 | 7674894 | stop gained | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
42 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
24 | 0.683 | 0.440 | 9 | 22068653 | intron variant | G/A | snv | 0.64 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 16 | 10870261 | intron variant | G/T | snv | 0.78 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
31 | 0.667 | 0.360 | 17 | 7674893 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
26 | 0.672 | 0.320 | 3 | 179218305 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.807 | 0.240 | 16 | 23614089 | frameshift variant | T/- | delins | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
19 | 0.708 | 0.280 | 17 | 7673782 | missense variant | T/C;G | snv | 1.6E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
25 | 0.677 | 0.480 | 17 | 7675089 | missense variant | G/A;C | snv | 1.6E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 |