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 | 15 | 89776853 | frameshift variant | -/ACCG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 15 | 89776598 | stop gained | G/A;C;T | snv | 8.4E-06; 2.5E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 15 | 89777057 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 15 | 89776473 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 15 | 89776613 | frameshift variant | CAGC/- | delins | 3.5E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 15 | 89776368 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 15 | 89776601 | frameshift variant | -/GCAGAGCG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 15 | 89776699 | frameshift variant | -/GC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 15 | 89776706 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 15 | 89776943 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 15 | 89777094 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 15 | 89776586 | stop gained | G/A;T | snv | 8.2E-06; 2.5E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 15 | 89776730 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 15 | 89776664 | stop gained | G/A;C;T | snv | 1.0E-04; 2.7E-05; 4.1E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 15 | 89776607 | stop gained | C/A;T | snv | 8.6E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 15 | 89776405 | stop gained | G/A;C | snv | 0.700 | 0 |