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 | 1.000 | 0.120 | 6 | 29702484 | regulatory region variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.763 | 0.320 | 5 | 1342599 | intron variant | C/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.763 | 0.240 | 9 | 21974219 | intron variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
34 | 0.641 | 0.440 | 17 | 7674894 | stop gained | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
42 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
24 | 0.683 | 0.440 | 9 | 22068653 | intron variant | G/A | snv | 0.64 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
31 | 0.667 | 0.360 | 17 | 7674893 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 16 | 10870261 | intron variant | G/T | snv | 0.78 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.160 | 3 | 169364845 | intron variant | G/A | snv | 0.42 | 0.700 | 1.000 | 2 | 2010 | 2016 | ||||
|
19 | 0.708 | 0.280 | 17 | 7673782 | missense variant | T/C;G | snv | 1.6E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.120 | 13 | 23631056 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 2 | 2010 | 2016 |