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 | 16 | 50729867 | missense variant | G/A;C | snv | 4.0E-06; 1.5E-02 | 7.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.716 | 0.400 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 1.5E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.807 | 0.200 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 0.700 | 1.000 | 1 | 2011 | 2011 |