| 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 | 35090266 | missense variant | G/A | snv | 0.800 | 1.000 | 4 | 2012 | 2017 | ||||||
|
1 | 1.000 | 9 | 35093040 | missense variant | T/C | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 4 | 2012 | 2017 | ||||
|
1 | 1.000 | 9 | 35095211 | missense variant | G/A | snv | 2.0E-05 | 0.700 | 1.000 | 4 | 2012 | 2017 | |||||
|
1 | 1.000 | 9 | 35090673 | splice acceptor variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2012 | 2014 | ||||
|
2 | 0.925 | 0.240 | 9 | 35092076 | frameshift variant | -/G | delins | 1.5E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 9 | 35091928 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 9 | 35094281 | missense variant | G/A | snv | 8.1E-06 | 7.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 9 | 35091880 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 9 | 35092615 | frameshift variant | CA/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 9 | 35090061 | splice region variant | C/T | snv | 2.8E-05 | 4.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 9 | 35095361 | frameshift variant | -/C | delins | 8.0E-06; 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 9 | 35091696 | frameshift variant | G/-;GG | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 9 | 35091526 | frameshift variant | G/-;GG | delins | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 9 | 35093118 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 9 | 35091275 | missense variant | T/G | snv | 1.4E-05 | 0.700 | 0 |