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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.160 | X | 15592225 | splice region variant | C/T | snv | 6.2E-06; 0.28 | 0.23 | 0.020 | 1.000 | 2 | 2012 | 2018 | |||
|
4 | 0.925 | 0.120 | X | 15583220 | intron variant | A/G | snv | 9.1E-02 | 0.020 | 0.500 | 2 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.160 | X | 15572684 | intron variant | C/G | snv | 0.020 | 1.000 | 2 | 2018 | 2018 | |||||
|
2 | X | 15599940 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
9 | 0.827 | 0.160 | X | 15564667 | intron variant | C/T | snv | 0.40 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.827 | 0.120 | X | 15599938 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | X | 15564843 | intron variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | 0.925 | 0.080 | X | 15568841 | intron variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | X | 15584941 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 0.925 | 0.080 | X | 15579386 | intron variant | C/T | snv | 3.9E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | X | 15578920 | intron variant | A/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 0.925 | 0.080 | X | 15558483 | downstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |