| 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 | 134805044 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 9 | 134814881 | missense variant | G/A | snv | 3.8E-05 | 3.2E-04 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.160 | 9 | 134750808 | missense variant | G/A | snv | 3.5E-02 | 3.1E-02 | 0.700 | 0 | ||||||
|
1 | 1.000 | 9 | 134795057 | intron variant | T/G | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 9 | 134730386 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 9 | 134814039 | splice region variant | G/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 9 | 134835205 | splice region variant | GAGT/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 9 | 134812607 | frameshift variant | C/-;CC | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 9 | 134727264 | splice acceptor variant | A/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 9 | 134818847 | splice region variant | G/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 9 | 134815629 | splice region variant | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 9 | 134795115 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 9 | 134809213 | stop gained | C/T | snv | 0.700 | 0 |