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 | 0.200 | X | 134413937 | missense variant | A/G | snv | 0.800 | 1.000 | 3 | 2002 | 2013 | |||||
|
1 | 1.000 | 0.200 | X | 134413923 | missense variant | A/G | snv | 0.800 | 1.000 | 3 | 2002 | 2013 | |||||
|
1 | 1.000 | 0.200 | X | 134415055 | missense variant | A/G | snv | 0.800 | 1.000 | 3 | 2002 | 2013 | |||||
|
1 | 1.000 | 0.200 | X | 134393515 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.280 | X | 134425256 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | X | 134393556 | missense variant | G/T | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 134377751 | missense variant | G/A | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 134377619 | start lost | T/C | snv | 0.700 | 1.000 | 2 | 2002 | 2006 | |||||
|
1 | 1.000 | 0.200 | X | 134377639 | stop gained | A/T | snv | 0.710 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 1.000 | 0.200 | X | 134377644 | frameshift variant | -/GG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 134413910 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 134415043 | inframe deletion | ACA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 134377682 | stop gained | C/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.200 | X | 134417248 | missense variant | G/T | snv | 0.800 | 1.000 | 3 | 2002 | 2013 | |||||
|
7 | 0.807 | 0.360 | X | 134393952 | missense variant | G/A | snv | 0.700 | 0 |