| 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 | 1 | 207757204 | splice donor variant | T/G | snv | 5.2E-05 | 4.2E-05 | 0.700 | 1.000 | 11 | 2006 | 2017 | |||
|
1 | 1.000 | 0.120 | 1 | 207790269 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.120 | 1 | 207793538 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 1 | 207785071 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.120 | 1 | 207767136 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 |