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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 0.800 | 0.846 | 1 | 2002 | 2018 | ||||
|
5 | 0.807 | 0.200 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.120 | 16 | 50728860 | intron variant | T/C | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 |