| 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 | 0.120 | 18 | 2707567 | missense variant | C/T | snv | 0.800 | 1.000 | 8 | 2012 | 2018 | |||||
|
1 | 1.000 | 0.120 | 18 | 2700851 | missense variant | C/T | snv | 7.0E-06 | 0.800 | 1.000 | 8 | 2012 | 2018 | ||||
|
1 | 1.000 | 0.120 | 18 | 2688722 | missense variant | A/G | snv | 0.700 | 1.000 | 8 | 2012 | 2018 | |||||
|
2 | 0.925 | 0.240 | 18 | 2667015 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 18 | 2750444 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 18 | 2763790 | splice donor variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 20 | 32801353 | missense variant | C/T | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 18 | 2700877 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 18 | 2667017 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 18 | 2694694 | splice donor variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 18 | 2739490 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 18 | 2769794 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 18 | 2697998 | stop gained | TGATA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 18 | 2694683 | stop gained | C/T | snv | 0.700 | 0 |