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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
31 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 1.000 | 4 | 2002 | 2009 | |||||
|
20 | 0.763 | 0.480 | 7 | 140781617 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
10 | 0.925 | 0.120 | 9 | 134798410 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
73 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
47 | 0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
27 | 0.708 | 0.400 | 12 | 112450364 | missense variant | T/A;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
73 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
14 | 0.882 | 0.080 | 7 | 44108060 | stop gained | -/A | delins | 1.3E-05 | 0.700 | 0 | |||||||
|
45 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
12 | 0.851 | 0.240 | 9 | 134701287 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
18 | 0.752 | 0.320 | 12 | 112473040 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
10 | 0.790 | 0.280 | 17 | 50196337 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 1 | 235806165 | missense variant | G/T | snv | 0.700 | 0 | ||||||||||
|
11 | 0.790 | 0.280 | 1 | 155904493 | missense variant | T/G | snv | 0.700 | 0 |