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 | 0.120 | 2 | 25161572 | stop gained | C/A;G;T | snv | 6.2E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 2 | 25161734 | stop gained | T/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 2 | 25161754 | splice acceptor variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 25164783 | 5 prime UTR variant | G/T | snv | 2.8E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 2 | 25161452 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 25161480 | frameshift variant | -/CC | delins | 0.700 | 0 |