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 | 0.200 | 11 | 69810559 | missense variant | A/G | snv | 0.800 | 1.000 | 2 | 2007 | 2008 | |||||
|
1 | 1.000 | 0.200 | 11 | 69818917 | missense variant | A/G | snv | 0.800 | 1.000 | 2 | 2007 | 2008 | |||||
|
1 | 1.000 | 0.200 | 11 | 69816334 | stop gained | G/A | snv | 2.4E-05 | 2.1E-05 | 0.710 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.200 | 11 | 69816361 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 1.4E-05 | 0.710 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.200 | 11 | 69818738 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 11 | 69816373 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 11 | 69818788 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 11 | 69818784 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 11 | 69816389 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 11 | 69810631 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 11 | 69810409 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 11 | 69816327 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 11 | 69810567 | frameshift variant | CA/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | 11 | 69810563 | stop gained | G/A;C;T | snv | 3.2E-05 | 4.9E-05 | 0.700 | 0 |