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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.807 | 0.280 | 22 | 19176222 | missense variant | G/A;C | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
67 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
19 | 0.763 | 0.280 | 8 | 60850546 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.040 | 20 | 48953604 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.040 | 1 | 235980495 | splice donor variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.160 | 4 | 122207168 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.040 | 17 | 50277743 | splice region variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.080 | 17 | 2039760 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.790 | 0.120 | 10 | 121520085 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
17 | 0.776 | 0.280 | 9 | 92718565 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 16 | 3729810 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.320 | 17 | 19357875 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 |