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 | 0.160 | 16 | 88809834 | missense variant | A/G | snv | 4.0E-06 | 0.810 | 1.000 | 8 | 1987 | 2011 | ||||
|
1 | 1.000 | 0.160 | 16 | 88810550 | missense variant | T/A | snv | 0.800 | 1.000 | 8 | 1987 | 2011 | |||||
|
1 | 1.000 | 0.160 | 16 | 88810141 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 0.800 | 1.000 | 8 | 1987 | 2011 | |||
|
1 | 1.000 | 0.160 | 16 | 88810482 | frameshift variant | -/TCGG | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 1992 | 1992 | ||||
|
1 | 1.000 | 0.160 | 16 | 88809793 | missense variant | C/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2001 | 2001 | |||
|
1 | 1.000 | 0.160 | 16 | 88810067 | splice donor variant | -/A | delins | 1.1E-04 | 4.9E-05 | 0.700 | 1.000 | 1 | 2001 | 2001 | |||
|
1 | 1.000 | 0.160 | 16 | 88810450 | stop gained | C/T | snv | 2.4E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 16 | 88809718 | inframe deletion | AAG/- | delins | 7.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 16 | 88810494 | missense variant | C/T | snv | 3.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 16 | 88810420 | splice donor variant | -/A | delins | 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 16 | 88809699 | stop lost | C/G | snv | 7.0E-06 | 0.700 | 0 |