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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
73 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 9 | 2005 | 2009 | |||||
|
3 | 0.882 | 0.120 | 1 | 235450286 | stop gained | G/A | snv | 0.020 | 1.000 | 2 | 2015 | 2017 | |||||
|
25 | 0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.080 | 1 | 22784698 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.200 | X | 153868866 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
8 | 0.851 | 0.160 | 8 | 93808861 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.925 | 0.040 | 22 | 23791772 | missense variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
7 | 0.851 | 0.240 | 17 | 31352348 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
6 | 0.827 | 0.200 | 3 | 10149916 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
19 | 0.776 | 0.280 | 1 | 11965571 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
18 | 0.732 | 0.280 | 19 | 52212729 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.120 | 5 | 150125556 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
9 | 0.790 | 0.240 | 10 | 87933160 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.160 | X | 19353124 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
25 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.160 | 8 | 93791324 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.240 | 8 | 28555799 | frameshift variant | -/A | delins | 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 | 0 | ||||||||
|
19 | 0.763 | 0.280 | 8 | 60850546 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.040 | 20 | 48953604 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.160 | 4 | 122207168 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.040 | 17 | 50277743 | splice region variant | A/G | snv | 0.700 | 0 | ||||||||
|
17 | 0.776 | 0.280 | 9 | 92718565 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 16 | 3729810 | missense variant | C/A | snv | 0.700 | 0 |