| 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 | 9 | 83971903 | frameshift variant | -/AA | ins | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||||
|
1 | 1.000 | 9 | 83971681 | stop gained | -/T | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1.000 | 9 | 83973338 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1.000 | 9 | 83975462 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 9 | 83970911 | splice acceptor variant | C/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 9 | 83971356 | splice acceptor variant | C/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 9 | 83971671 | splice donor variant | C/T | snv | 0.700 | 0 | |||||||||
|
4 | 0.925 | 9 | 83971976 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
4 | 0.925 | 0.080 | 9 | 83975466 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
59 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | ||||||||
|
7 | 1.000 | 9 | 83972190 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 9 | 83971880 | coding sequence variant | -/C | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 9 | 83972055 | frameshift variant | -/C | delins | 0.700 | 0 |