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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 14 | 23427274 | missense variant | C/G | snv | 0.700 | 0 | ||||||||||
|
3 | 1.000 | 0.120 | X | 154420961 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
4 | X | 32380517 | stop gained | C/T | snv | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.160 | 2 | 178572564 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 2 | 178621183 | stop gained | T/A;C | snv | 0.700 | 0 | ||||||||||
|
1 | 6 | 7584830 | frameshift variant | ACAG/- | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.040 | 10 | 110821333 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 10 | 119669920 | frameshift variant | -/TGTGTAC | delins | 0.700 | 0 | ||||||||||
|
1 | 11 | 19185040 | missense variant | C/G | snv | 0.700 | 0 | ||||||||||
|
1 | 11 | 19192353 | synonymous variant | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 11 | 19192403 | missense variant | T/A | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 10 | 68121896 | missense variant | A/C;G | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 2 | 178578078 | stop gained | C/A;T | snv | 3.3E-04 | 0.700 | 0 | |||||||||
|
5 | 0.925 | 0.200 | 12 | 57796461 | stop gained | C/T | snv | 1.5E-03 | 1.3E-03 | 0.700 | 0 | ||||||
|
1 | 2 | 178689897 | splice acceptor variant | C/T | snv | 3.4E-04 | 4.7E-04 | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.160 | 2 | 219425734 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1 | 156136352 | frameshift variant | GCACGCAC/-;GCACGCACGCAC | delins | 0.700 | 0 | ||||||||||
|
2 | 2 | 178620285 | stop gained | G/A;T | snv | 4.9E-06 | 0.700 | 0 | |||||||||
|
1 | 2 | 178588700 | stop gained | G/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||||
|
3 | 1.000 | 0.040 | 2 | 178578066 | stop gained | G/A;T | snv | 4.0E-06; 5.6E-05 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.160 | 2 | 178617388 | stop gained | G/A;T | snv | 3.2E-05 | 0.700 | 0 | |||||||
|
1 | 14 | 23427773 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||||
|
1 | X | 154420948 | stop gained | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 11 | 47339758 | missense variant | G/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||||
|
1 | 14 | 23427682 | missense variant | G/T | snv | 0.700 | 0 |