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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.776 | 0.200 | 11 | 686962 | missense variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2017 | 2017 | |||||
|
27 | 0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
14 | 0.776 | 0.120 | 2 | 142918608 | splice acceptor variant | G/T | snv | 1.4E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.882 | 0.160 | 16 | 3508407 | missense variant | T/G | snv | 1.3E-05 | 4.2E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.882 | 0.160 | 16 | 3520011 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
33 | 0.776 | 0.280 | 12 | 51765746 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 11 | 71441401 | stop gained | C/G;T | snv | 7.7E-04 | 0.700 | 0 | |||||||
|
29 | 0.742 | 0.280 | 6 | 33438873 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
11 | 0.851 | 0.080 | 8 | 23007627 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
23 | 0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
17 | 0.742 | 0.320 | X | 18628716 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
44 | 0.708 | 0.320 | X | 53647390 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
97 | 0.614 | 0.480 | 9 | 95485875 | splice acceptor variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
5 | 0.882 | 0.160 | 11 | 71439055 | missense variant | A/C;G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
54 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.360 | X | 134393952 | missense variant | G/A | snv | 0.700 | 0 |