Source: ALL
| 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 | 22 | 50523901 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.800 | 1.000 | 8 | 1999 | 2015 | |||
|
7 | 0.925 | 0.240 | 22 | 50523994 | missense variant | C/T | snv | 8.0E-05 | 1.1E-04 | 0.800 | 1.000 | 8 | 1999 | 2015 | |||
|
1 | 1.000 | 0.200 | 22 | 50524014 | missense variant | C/T | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 22 | 50523738 | missense variant | G/A;T | snv | 4.0E-06 | 0.800 | 0 | |||||||
|
2 | 0.925 | 0.200 | 22 | 50523835 | missense variant | C/A;T | snv | 8.0E-06; 3.2E-05 | 0.700 | 1.000 | 8 | 1999 | 2015 | ||||
|
1 | 1.000 | 0.200 | 22 | 50524305 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 22 | 50524255 | stop gained | G/A | snv | 8.4E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 22 | 50524144 | stop gained | G/A | snv | 1.6E-05 | 0.700 | 0 |