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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 22 | 41177712 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.240 | 12 | 49185446 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | 14 | 102033157 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | 16 | 89932649 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | X | 111410209 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | X | 154350030 | splice donor variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.280 | 1 | 160127638 | frameshift variant | C/- | del | 0.700 | 1.000 | 1 | 2020 | 2020 | |||||
|
4 | 0.851 | 0.280 | 1 | 160135284 | frameshift variant | GT/- | delins | 0.700 | 1.000 | 1 | 2020 | 2020 | |||||
|
67 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.120 | 1 | 197102323 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 1 | 197143279 | frameshift variant | AT/- | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
7 | 0.851 | 0.120 | 6 | 132472372 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.120 | X | 111401121 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | X | 111401087 | missense variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | X | 111410166 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | X | 111410134 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | X | 111410223 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
11 | 0.807 | 0.160 | 2 | 166036149 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111410089 | missense variant | T/A;C | snv | 5.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | X | 111410094 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | X | 111401108 | missense variant | C/A;T | snv | 9.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | X | 111301745 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111410284 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111410275 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | X | 111410271 | missense variant | A/G | snv | 0.700 | 0 |