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 | 0.120 | 4 | 127932984 | splice donor variant | C/G;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.120 | 11 | 6617040 | stop gained | G/A | snv | 2.2E-04 | 2.4E-04 | 0.030 | 1.000 | 3 | 1998 | 2017 | |||
|
2 | 0.925 | 0.120 | 11 | 6614892 | stop gained | G/A | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
2 | 0.925 | 0.120 | 11 | 6615256 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 |