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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 1.000 | X | 71132465 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 3 | 47101476 | missense variant | T/C | snv | 0.700 | 0 | |||||||||
|
6 | 0.882 | 19 | 41986177 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
|
3 | 1.000 | 0.040 | 5 | 126583997 | stop gained | G/A;C | snv | 6.0E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.040 | 5 | 126545020 | splice acceptor variant | C/A;T | snv | 1.6E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.925 | 0.040 | 15 | 74345160 | frameshift variant | AG/- | del | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.040 | 10 | 110122249 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
5 | 0.882 | 0.080 | 10 | 87952230 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.120 | 13 | 26337623 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.851 | 0.160 | 10 | 1080454 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
14 | 0.851 | 0.160 | 4 | 55359444 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.200 | X | 70329420 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
67 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
37 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | ||||||||
|
10 | 0.807 | 0.240 | X | 72495216 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
16 | 0.776 | 0.240 | 15 | 89649836 | missense variant | T/G | snv | 1.3E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
8 | 0.807 | 0.280 | 22 | 19176222 | missense variant | G/A;C | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
17 | 0.776 | 0.280 | 9 | 92718565 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
54 | 0.689 | 0.320 | 7 | 40046006 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
17 | 0.807 | 0.320 | 11 | 71441307 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
20 | 0.807 | 0.320 | 11 | 71435840 | splice acceptor variant | C/A;G | snv | 5.6E-05; 3.9E-03 | 0.700 | 0 | |||||||
|
17 | 0.752 | 0.320 | 8 | 60849154 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
15 | 0.790 | 0.320 | 18 | 6942110 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
51 | 0.695 | 0.360 | 21 | 37472869 | frameshift variant | TAAC/- | delins | 0.700 | 0 | ||||||||
|
33 | 0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv | 0.700 | 0 |