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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.763 | 0.200 | 19 | 11105588 | stop gained | G/A;C;T | snv | 1.6E-05; 1.6E-05; 8.1E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.080 | 19 | 11110760 | missense variant | G/A;C | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
4 | 0.882 | 0.120 | 19 | 11111523 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.160 | 19 | 11113348 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
9 | 0.776 | 0.160 | 19 | 11113365 | missense variant | A/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.925 | 0.080 | 19 | 44909021 | missense variant | G/A;C | snv | 7.3E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
28 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 1 | 55052764 | stop gained | A/G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
6 | 0.851 | 0.160 | 1 | 55058129 | missense variant | A/G | snv | 1.2E-03 | 4.8E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
9 | 0.776 | 0.160 | 1 | 55058630 | missense variant | C/T | snv | 4.4E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 |