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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
53 | 0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
64 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.200 | 16 | 2088293 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 9 | 132923361 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 9 | 132921418 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.200 | 9 | 132906053 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.200 | 9 | 132903785 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 9 | 132911110 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 16 | 2070571 | missense variant | G/A | snv | 0.800 | 1.000 | 2 | 2000 | 2002 | |||||
|
3 | 0.882 | 0.200 | 16 | 2074394 | splice region variant | G/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 16 | 2050487 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 16 | 2064286 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 16 | 2070570 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2060790 | stop gained | G/A;C;T | snv | 1.6E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.200 | 16 | 2064341 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 16 | 2072879 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 16 | 2088117 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 |