| 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 | 0.200 | 19 | 45553639 | stop gained | G/A | snv | 0.710 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.200 | 19 | 45553912 | splice acceptor variant | C/G | snv | 0.700 | 1.000 | 3 | 2001 | 2015 | |||||
|
3 | 0.882 | 0.200 | 19 | 45553741 | stop gained | G/A;C | snv | 0.700 | 1.000 | 3 | 2004 | 2015 | |||||
|
1 | 1.000 | 0.200 | 19 | 45553836 | frameshift variant | -/C | delins | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.200 | 19 | 45584664 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.200 | 19 | 45553515 | stop lost | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 19 | 45553840 | missense variant | T/C | snv | 8.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 19 | 45584622 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 19 | 45584704 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 19 | 45553777 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 19 | 45553715 | inframe deletion | CCTCCTTGTGGCGCTGCT/- | delins | 0.700 | 0 | ||||||||
|
12 | 0.807 | 0.320 | 3 | 193643378 | missense variant | A/G | snv | 6.2E-04 | 5.7E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.200 | 19 | 45529184 | stop gained | G/A | snv | 9.6E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 |