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 | 13 | 24906775 | missense variant | C/G | snv | 1.6E-04 | 2.0E-04 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 13 | 24906452 | stop gained | G/C | snv | 9.6E-05 | 1.1E-04 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 13 | 24899538 | stop gained | G/A;C | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 13 | 24885387 | splice acceptor variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 13 | 24884443 | inframe insertion | -/CTT | delins | 3.6E-05 | 3.5E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 13 | 24906631 | frameshift variant | AAGA/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 13 | 24906699 | stop gained | T/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 13 | 24906187 | frameshift variant | AG/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 13 | 24906156 | frameshift variant | C/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 13 | 24906069 | stop gained | G/A | snv | 8.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 13 | 24892851 | frameshift variant | -/T | delins | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.120 | 13 | 24908093 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 13 | 24885671 | splice acceptor variant | C/G | snv | 0.700 | 0 |