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 | 15 | 55223967 | missense variant | A/G | snv | 0.800 | 1.000 | 4 | 2000 | 2005 | |||||
|
1 | 1.000 | 0.200 | 15 | 55223902 | missense variant | C/G;T | snv | 4.0E-06 | 0.800 | 1.000 | 4 | 2000 | 2005 | ||||
|
1 | 1.000 | 0.200 | 15 | 55230423 | missense variant | A/C | snv | 0.800 | 0 | ||||||||
|
5 | 0.925 | 0.280 | 15 | 55205623 | stop gained | G/A | snv | 6.8E-05 | 6.3E-05 | 0.700 | 1.000 | 7 | 2000 | 2014 | |||
|
1 | 1.000 | 0.200 | 15 | 55228693 | missense variant | C/G;T | snv | 1.2E-04; 3.2E-05 | 0.700 | 1.000 | 3 | 2006 | 2016 | ||||
|
1 | 1.000 | 0.200 | 15 | 55223888 | splice donor variant | C/G | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2000 | 2013 | ||||
|
1 | 1.000 | 0.200 | 15 | 55228708 | missense variant | G/A | snv | 1.6E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.200 | 15 | 55224004 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 15 | 55234933 | start lost | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 15 | 55234916 | stop gained | CA/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 15 | 55205655 | frameshift variant | GGCTT/- | delins | 2.4E-05 | 3.5E-05 | 0.700 | 0 |