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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.790 | 0.240 | 1 | 46194853 | stop gained | G/A;T | snv | 2.0E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
67 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.776 | 0.280 | 1 | 11965571 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.400 | 1 | 1806512 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
63 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
17 | 0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
11 | 0.807 | 0.200 | 1 | 26767868 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
33 | 0.742 | 0.320 | 1 | 153816414 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.925 | 0.160 | 1 | 53211110 | missense variant | A/G;T | snv | 1.2E-05; 4.0E-05 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.160 | 1 | 11144735 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.240 | 1 | 40089414 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.040 | 2 | 227699378 | missense variant | A/G | snv | 4.4E-05 | 4.2E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
10 | 0.827 | 0.160 | 2 | 240785062 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.925 | 0.040 | 2 | 227702236 | frameshift variant | -/TC | delins | 2.4E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
7 | 0.882 | 0.200 | 2 | 201675255 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
11 | 0.851 | 0.120 | 2 | 8730956 | frameshift variant | GT/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.851 | 0.240 | 2 | 100006808 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
10 | 0.882 | 0.080 | 2 | 161423825 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.120 | 2 | 166002716 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
19 | 0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
14 | 0.807 | 0.240 | 2 | 218814379 | splice acceptor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 2 | 165386920 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.200 | 2 | 199323850 | stop gained | T/A;C | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.240 | 3 | 4627877 | splice region variant | CGTA/- | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.882 | 0.200 | 3 | 48467284 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |