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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 13 | 20189353 | missense variant | A/G | snv | 4.0E-05 | 1.1E-04 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.120 | 13 | 20189282 | frameshift variant | AT/- | del | 6.4E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.120 | 13 | 20189256 | frameshift variant | CTTGATGAACTTCC/- | delins | 1.5E-04 | 0.700 | 0 | |||||||
|
6 | 0.851 | 0.120 | 13 | 20189347 | frameshift variant | G/- | delins | 4.7E-04; 4.0E-06 | 2.1E-04 | 0.700 | 0 | ||||||
|
8 | 0.790 | 0.200 | 13 | 20189481 | missense variant | A/C;G | snv | 8.7E-03 | 0.700 | 0 | |||||||
|
9 | 0.763 | 0.280 | 13 | 20189351 | stop gained | C/T | snv | 1.4E-04 | 4.2E-05 | 0.700 | 0 | ||||||
|
10 | 0.763 | 0.280 | 13 | 20188965 | missense variant | T/C | snv | 9.6E-05 | 1.8E-04 | 0.700 | 0 | ||||||
|
10 | 0.776 | 0.280 | 13 | 20189415 | frameshift variant | A/- | del | 8.9E-04 | 5.8E-04 | 0.700 | 0 | ||||||
|
11 | 0.742 | 0.240 | 13 | 20223450 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
11 | 0.763 | 0.280 | 13 | 20189166 | missense variant | C/T | snv | 2.9E-04 | 4.6E-04 | 0.700 | 0 | ||||||
|
11 | 0.763 | 0.280 | 13 | 20192782 | splice donor variant | C/T | snv | 2.3E-04 | 0.700 | 0 | |||||||
|
13 | 0.742 | 0.280 | 13 | 20189548 | missense variant | C/A;G | snv | 5.1E-04 | 0.700 | 0 | |||||||
|
14 | 0.732 | 0.280 | 13 | 20189547 | frameshift variant | C/-;CC | delins | 6.4E-03 | 0.700 | 0 | |||||||
|
18 | 0.708 | 0.440 | 13 | 20189473 | missense variant | C/A;T | snv | 7.7E-03 | 0.700 | 0 | |||||||
|
28 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 0.700 | 0 | ||||||
|
32 | 0.695 | 0.440 | 13 | 20189313 | missense variant | A/G | snv | 6.4E-04 | 6.4E-04 | 0.700 | 0 |