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 | 10 | 71362459 | missense variant | G/A | snv | 2.4E-05 | 2.1E-05 | 0.800 | 1.000 | 10 | 2008 | 2015 | |||
|
1 | 1.000 | 0.200 | 10 | 71362489 | missense variant | G/A | snv | 4.8E-05 | 6.3E-05 | 0.800 | 1.000 | 10 | 2008 | 2017 | |||
|
1 | 1.000 | 0.200 | 10 | 71344255 | missense variant | T/G | snv | 2.4E-05 | 7.7E-05 | 0.800 | 1.000 | 9 | 2008 | 2012 | |||
|
1 | 1.000 | 0.200 | 10 | 71362526 | missense variant | C/G;T | snv | 1.6E-05; 3.2E-05 | 0.800 | 1.000 | 9 | 2008 | 2012 | ||||
|
1 | 1.000 | 0.200 | 10 | 71362268 | missense variant | G/A | snv | 8.0E-06 | 0.800 | 1.000 | 9 | 2008 | 2012 | ||||
|
1 | 1.000 | 0.200 | 10 | 71362267 | missense variant | C/T | snv | 4.8E-05 | 4.2E-05 | 0.800 | 1.000 | 9 | 2008 | 2012 | |||
|
1 | 1.000 | 0.200 | 10 | 71351578 | missense variant | C/T | snv | 1.2E-05 | 3.5E-05 | 0.700 | 1.000 | 9 | 2008 | 2012 | |||
|
1 | 1.000 | 0.200 | 10 | 71351728 | missense variant | A/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 10 | 71362510 | stop gained | G/T | snv | 2.8E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 10 | 71351785 | missense variant | T/C | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 10 | 71362337 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 10 | 71362408 | stop gained | C/T | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 10 | 71323055 | splice donor variant | G/A;C | snv | 6.4E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 10 | 71322827 | stop gained | C/G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 10 | 71351657 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 10 | 71344215 | frameshift variant | TT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 10 | 71362221 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 10 | 71362120 | frameshift variant | T/- | del | 0.700 | 0 |