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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.742 | 0.200 | 5 | 112839515 | frameshift variant | AAAGA/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 5 | 112839606 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
8 | 0.807 | 0.120 | 5 | 112828889 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.120 | 5 | 112838399 | stop gained | C/A;G;T | snv | 4.7E-04 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 5 | 112838233 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.120 | 5 | 112754960 | stop gained | C/T | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.120 | 5 | 112839461 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
10 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.800 | 0.861 | 5 | 1997 | 2017 | |||
|
7 | 0.827 | 0.120 | 5 | 112792494 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.120 | 5 | 112780895 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.120 | 5 | 112792446 | stop gained | C/G;T | snv | 4.0E-06 | 0.710 | 1.000 | 0 | 2012 | 2012 | ||||
|
10 | 0.776 | 0.080 | 5 | 112761654 | intron variant | A/G | snv | 9.6E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 5 | 112838262 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.776 | 0.200 | 5 | 112815507 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.120 | 5 | 112819347 | splice region variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.120 | 5 | 112815594 | splice donor variant | G/A | snv | 0.700 | 0 |