| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.320 | 1 | 160042339 | missense variant | C/G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.882 | 0.120 | 3 | 170998321 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
8 | 0.827 | 0.280 | X | 108597479 | missense variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.160 | 1 | 16044506 | frameshift variant | -/G | delins | 4.3E-06 | 5.6E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.280 | 19 | 7142938 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 |