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 | 2 | 15417582 | missense variant | A/C | snv | 8.0E-06 | 0.810 | 1.000 | 2 | 2015 | 2019 | |||||
|
2 | 0.925 | 2 | 15394320 | missense variant | A/G | snv | 0.800 | 0 | |||||||||
|
1 | 1.000 | 2 | 15402288 | missense variant | A/C;G | snv | 1.2E-05; 1.1E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 2 | 15539327 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 2 | 15534609 | missense variant | T/C;G | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 2 | 15468510 | stop gained | C/A;T | snv | 1.6E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 2 | 15424368 | missense variant | C/A | snv | 8.0E-06 | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 2 | 15534602 | frameshift variant | -/A | delins | 3.5E-04 | 3.8E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 2 | 15474165 | stop gained | G/A;C | snv | 1.6E-05; 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 2 | 15178988 | splice region variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 2 | 15536505 | inframe deletion | TCA/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 2 | 15536460 | inframe deletion | GAG/- | delins | 7.0E-06 | 0.700 | 0 |