| 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 | 1.000 | 0.160 | 3 | 165829812 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 165830664 | missense variant | T/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 3 | 165829537 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 165829661 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 165830004 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 165830347 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 165830372 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 165830423 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 165830990 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
13 | 0.763 | 0.360 | 3 | 165773492 | missense variant | C/T | snv | 0.18 | 0.18 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 3 | 165830599 | frameshift variant | A/CT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 165830879 | missense variant | G/A;T | snv | 1.7E-04; 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 3 | 165830419 | stop gained | C/A;T | snv | 5.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 3 | 165830885 | frameshift variant | C/- | delins | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 3 | 165829967 | missense variant | G/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 3 | 165830202 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 3 | 165830727 | missense variant | C/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 3 | 165830739 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 |