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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
32 | 0.672 | 0.560 | 3 | 69964940 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 | 0.700 | 1.000 | 4 | 2011 | 2016 | |||
|
46 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 1.000 | 6 | 33441374 | splice region variant | G/A | snv | 0.700 | 0 | |||||||||
|
7 | 0.925 | 18 | 55350409 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
|
9 | 0.882 | 0.160 | X | 41341587 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.080 | 4 | 139336933 | frameshift variant | CTTGA/- | delins | 0.700 | 0 | ||||||||
|
27 | 0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.280 | X | 53536209 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.280 | X | 53536580 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
23 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
12 | 0.851 | 0.120 | 14 | 77026534 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
38 | 0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.120 | X | 154032206 | splice donor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
46 | 0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
30 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
33 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.160 | X | 18588021 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
72 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.700 | 0 | |||||||
|
16 | 0.776 | 0.360 | 13 | 50945445 | missense variant | G/A | snv | 1.4E-03 | 1.4E-03 | 0.700 | 0 | ||||||
|
6 | 0.882 | 0.280 | X | 53549413 | missense variant | A/C;G | snv | 1.1E-05 | 0.700 | 0 | |||||||
|
54 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | ||||||||
|
10 | 0.827 | 0.160 | 19 | 52213076 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
10 | 0.827 | 0.160 | 9 | 128203609 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.240 | 20 | 50892526 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.280 | X | 53551078 | missense variant | G/A | snv | 0.700 | 0 |