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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 2 | 120365807 | intergenic variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
73 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
73 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
28 | 0.716 | 0.520 | 20 | 58903703 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
31 | 0.742 | 0.440 | 1 | 40290871 | frameshift variant | T/-;TT | delins | 0.700 | 0 | ||||||||
|
46 | 0.742 | 0.480 | 19 | 35718020 | frameshift variant | -/GGCGGGCGGCGGC | delins | 0.700 | 0 | ||||||||
|
18 | 0.851 | 0.120 | 11 | 86277110 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.240 | 2 | 39022772 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
20 | 0.790 | 0.280 | 5 | 177283827 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 13 | 102027776 | intron variant | G/A | snv | 5.6E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 13 | 77305241 | intron variant | G/A | snv | 0.16 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 21 | 42023389 | intron variant | C/T | snv | 0.16 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 2 | 120360548 | intergenic variant | T/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 2 | 120360455 | intergenic variant | A/G | snv | 0.68 | 0.700 | 1.000 | 1 | 2012 | 2012 |