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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.807 | 0.160 | 4 | 154585795 | missense variant | T/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
36 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
34 | 0.653 | 0.480 | 11 | 69648142 | splice region variant | G/A | snv | 0.45 | 0.39 | 0.700 | 1.000 | 2 | 2017 | 2017 | |||
|
1 | 1.000 | 0.120 | 22 | 39151886 | intron variant | C/G | snv | 0.68 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 13 | 34612315 | intron variant | T/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 1 | 19968007 | upstream gene variant | C/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
73 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.200 | 7 | 21898622 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 2 | 6303084 | intron variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 8 | 52506268 | intergenic variant | T/A | snv | 0.58 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 7 | 151239990 | intron variant | T/C | snv | 7.5E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 |