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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 6 | 109735199 | stop gained | C/A;T | snv | 8.0E-06; 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 6 | 109743678 | frameshift variant | ATCAGGCA/- | del | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 6 | 109727110 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 6 | 109727107 | splice acceptor variant | A/T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 6 | 109738435 | frameshift variant | G/- | delins | 3.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.240 | 6 | 109738415 | stop gained | G/A | snv | 3.2E-05 | 2.2E-04 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.120 | 6 | 109715133 | missense variant | T/C | snv | 9.8E-04 | 1.1E-03 | 0.820 | 1.000 | 8 | 2007 | 2018 | |||
|
1 | 1.000 | 0.080 | 6 | 109691485 | missense variant | T/C | snv | 2.1E-05 | 0.700 | 1.000 | 3 | 2007 | 2011 | ||||
|
1 | 1.000 | 0.080 | 6 | 109743137 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 | 0.800 | 1.000 | 3 | 2007 | 2011 | |||
|
1 | 1.000 | 0.080 | 6 | 109796772 | stop gained | C/T | snv | 2.4E-05 | 1.4E-05 | 0.700 | 1.000 | 2 | 2011 | 2013 | |||
|
2 | 1.000 | 0.080 | 6 | 109760253 | stop gained | C/T | snv | 3.6E-05 | 8.4E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 |