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 | 15 | 48425795 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 15 | 48596343 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
13 | 0.763 | 0.200 | 19 | 11105588 | stop gained | G/A;C;T | snv | 1.6E-05; 1.6E-05; 8.1E-06 | 0.700 | 0 | |||||||
|
23 | 0.724 | 0.320 | 15 | 48411280 | stop gained | G/A;C | snv | 4.0E-05; 8.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.790 | 0.280 | 15 | 48600217 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 188989397 | missense variant | GC/AA | mnv | 0.700 | 0 | ||||||||
|
16 | 0.708 | 0.280 | 15 | 48505106 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 7 | 66631041 | intron variant | G/A | snv | 0.51 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 0.040 | 15 | 48622729 | intron variant | A/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.851 | 0.040 | 15 | 48623687 | intron variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.200 | 20 | 46014472 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.851 | 0.120 | 16 | 31092475 | intron variant | A/G | snv | 0.66 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.040 | 15 | 48467094 | intron variant | G/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 20 | 1960525 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
11 | 0.742 | 0.200 | 15 | 48510125 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.040 | 15 | 48519823 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |