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 | 18 | 49992388 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 18 | 49974547 | stop gained | C/T | snv | 1.2E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 18 | 49974369 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.200 | 18 | 50001365 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.240 | 18 | 49836710 | splice donor variant | C/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.240 | 18 | 49837750 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 18 | 49963032 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 18 | 49984718 | missense variant | C/T | snv | 6.8E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 18 | 49839231 | stop gained | C/A;T | snv | 4.0E-06; 2.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 18 | 49936276 | missense variant | G/A | snv | 4.3E-06 | 0.820 | 1.000 | 7 | 2008 | 2018 | ||||
|
1 | 1.000 | 0.200 | 18 | 50036982 | missense variant | A/C;G | snv | 0.800 | 1.000 | 6 | 2008 | 2014 | |||||
|
1 | 1.000 | 0.200 | 18 | 49936289 | missense variant | G/A;C;T | snv | 1.7E-05; 1.3E-05; 2.2E-05 | 0.800 | 1.000 | 6 | 2008 | 2014 | ||||
|
1 | 1.000 | 0.200 | 18 | 49974470 | missense variant | C/T | snv | 0.700 | 1.000 | 6 | 2008 | 2014 | |||||
|
1 | 1.000 | 0.200 | 13 | 69707647 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.200 | 18 | 49936250 | splice donor variant | A/G;T | snv | 4.7E-06 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.200 | 18 | 49878940 | splice region variant | C/T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 |