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 | 0.882 | 0.120 | 7 | 128841304 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 7 | 128842700 | splice donor variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.120 | 7 | 128841511 | stop gained | G/A;T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.120 | 7 | 128846129 | frameshift variant | -/TACC | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.120 | 7 | 128848693 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.120 | 7 | 128837258 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.120 | 7 | 128857337 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.120 | 7 | 128854661 | stop gained | C/T | snv | 4.1E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.120 | 7 | 128844656 | splice acceptor variant | A/G | snv | 4.1E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.120 | 7 | 128849329 | splice acceptor variant | A/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.160 | 7 | 128845022 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2011 | 2015 | |||||
|
3 | 0.882 | 0.120 | 7 | 128855315 | splice donor variant | G/A | snv | 0.700 | 1.000 | 2 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.120 | 7 | 128845989 | splice acceptor variant | G/C | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 2 | 2014 | 2016 |