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 | 0.882 | 0.240 | 9 | 95101742 | stop gained | G/A | snv | 5.2E-05 | 7.7E-05 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.320 | 2 | 15945883 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
11 | 0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 16 | 89758685 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
13 | 0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 | 0.700 | 0 | ||||||
|
6 | 0.827 | 0.400 | 16 | 23635306 | stop gained | G/A | snv | 8.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
11 | 0.752 | 0.440 | 13 | 32379913 | splice region variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
14 | 0.724 | 0.440 | 13 | 32340037 | stop gained | C/A;G;T | snv | 4.0E-06; 2.0E-05 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.320 | 2 | 15945666 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
11 | 0.752 | 0.440 | 13 | 32319154 | stop gained | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
12 | 0.742 | 0.440 | 13 | 32340212 | stop gained | G/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
12 | 0.742 | 0.480 | 13 | 32356472 | stop gained | C/A;T | snv | 8.0E-06; 3.2E-05 | 0.700 | 0 |