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 | 11 | 124871062 | missense variant | G/A | snv | 0.800 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.200 | 11 | 124875145 | missense variant | G/A;C | snv | 1.1E-04 | 0.800 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.200 | 11 | 124875150 | missense variant | T/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 1 | 2004 | 2004 | ||||
|
3 | 0.882 | 0.200 | 11 | 124870650 | missense variant | G/A;C | snv | 1.2E-05; 4.0E-06 | 0.800 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.200 | 11 | 124865591 | missense variant | T/C | snv | 0.800 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.200 | 11 | 124868837 | missense variant | A/C | snv | 0.800 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.200 | 11 | 124872919 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 11 | 124875581 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 11 | 124874171 | frameshift variant | TT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 11 | 124874910 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 11 | 124874122 | frameshift variant | CA/- | delins | 7.0E-06 | 0.700 | 0 |