| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.120 | 2 | 166284785 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 2 | 166306951 | splice region variant | G/A;T | snv | 8.3E-06; 4.1E-06 | 0.700 | 0 | |||||||||
|
33 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 0.700 | 0 |