| 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 | 0.040 | 7 | 74060486 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74056324 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74046730 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74054730 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74043156 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74045182 | splice acceptor variant | CCTGCCTTCCTACACTCACTGCTTTGTCCCCCGGCAGG/- | delins | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.040 | 7 | 74051748 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 1 | 1997 | 1997 | |||||
|
1 | 1.000 | 0.040 | 7 | 74054715 | splice acceptor variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 7 | 74051922 | splice acceptor variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74051747 | splice region variant | C/G;T | snv | 1.2E-05 | 0.700 | 1.000 | 3 | 1997 | 2007 | ||||
|
1 | 1.000 | 0.040 | 7 | 74063229 | splice region variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74056270 | splice region variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 74028189 | start lost | T/C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |