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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 17 | 14206888 | missense variant | A/G;T | snv | 8.0E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 9 | 133352446 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 9 | 133352074 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 10 | 99727098 | stop gained | G/C | snv | 2.5E-04 | 2.9E-04 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 9 | 133353893 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.120 | 10 | 99724057 | missense variant | G/A | snv | 3.2E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 17 | 14069607 | start lost | T/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 10 | 99716419 | missense variant | A/C;G | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 9 | 133352518 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 9 | 133352101 | frameshift variant | CT/- | delins | 1.6E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.120 | 9 | 133354661 | frameshift variant | GGCTGGCAGA/AT | delins | 0.700 | 0 | ||||||||
|
9 | 0.827 | 0.160 | 9 | 133351970 | frameshift variant | AG/- | delins | 8.4E-05 | 0.700 | 0 |