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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.160 | 20 | 44636264 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 1994 | 1994 | ||||
|
3 | 0.882 | 0.160 | 20 | 44625581 | missense variant | G/A | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 20 | 44626601 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 20 | 44651574 | splice donor variant | C/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 20 | 44626516 | missense variant | C/A;G;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 20 | 44626570 | missense variant | G/C;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||
|
2 | 0.925 | 0.160 | 20 | 44626597 | missense variant | C/A | snv | 8.0E-06 | 8.4E-05 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.240 | 20 | 44623039 | missense variant | C/T | snv | 1.2E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.160 | 20 | 44624272 | missense variant | G/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||
|
2 | 0.925 | 0.160 | 20 | 44625568 | splice donor variant | C/T | snv | 2.1E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.160 | 20 | 44621121 | missense variant | G/A;C | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 20 | 44621082 | missense variant | A/C | snv | 4.4E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.240 | 20 | 44620391 | missense variant | G/A | snv | 5.2E-05 | 2.0E-04 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.160 | 20 | 44626498 | missense variant | A/G | snv | 7.2E-05 | 7.0E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.160 | 20 | 44623053 | missense variant | C/T | snv | 7.2E-05 | 9.8E-05 | 0.700 | 0 |