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 | 0.040 | 2 | 168976590 | missense variant | C/G | snv | 0.810 | 1.000 | 2 | 2004 | 2005 | |||||
|
5 | 0.827 | 0.240 | 2 | 168990819 | missense variant | T/C | snv | 2.5E-04 | 1.1E-04 | 0.710 | 1.000 | 1 | 2005 | 2005 | |||
|
8 | 0.790 | 0.240 | 2 | 168932442 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2004 | 2005 | |||
|
1 | 1.000 | 0.040 | 2 | 168936268 | missense variant | C/G | snv | 0.700 | 1.000 | 2 | 2004 | 2005 | |||||
|
2 | 0.925 | 0.080 | 2 | 168995403 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2004 | 2005 | |||||
|
1 | 1.000 | 0.040 | 2 | 168930693 | missense variant | C/T | snv | 4.2E-06 | 1.4E-05 | 0.700 | 1.000 | 2 | 2004 | 2005 | |||
|
1 | 1.000 | 0.040 | 2 | 168936277 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2004 | 2005 | ||||
|
2 | 0.925 | 0.040 | 2 | 168944925 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.040 | 2 | 168972025 | missense variant | C/T | snv | 9.3E-05 | 1.3E-04 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.040 | 2 | 168968498 | splice region variant | A/C | snv | 2.5E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 2 | 168970146 | missense variant | C/T | snv | 4.0E-06 | 2.8E-05 | 0.700 | 0 |