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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.790 | 0.120 | 3 | 48576249 | splice region variant | C/T | snv | 8.8E-05 | 9.8E-05 | 0.700 | 0 | ||||||
|
13 | 0.732 | 0.120 | 3 | 48593538 | missense variant | T/C | snv | 3.2E-05 | 9.1E-05 | 0.700 | 0 | ||||||
|
7 | 0.790 | 0.120 | 3 | 48570639 | splice region variant | C/T | snv | 3.0E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
9 | 0.776 | 0.120 | 3 | 48590721 | stop gained | G/A | snv | 3.6E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
7 | 0.790 | 0.120 | 3 | 48584754 | stop gained | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
7 | 0.790 | 0.120 | 3 | 48593554 | stop gained | G/A;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 3 | 48573047 | missense variant | C/G;T | snv | 0.700 | 1.000 | 2 | 1999 | 2000 | |||||
|
8 | 0.776 | 0.120 | 3 | 48575437 | missense variant | C/G;T | snv | 8.6E-06; 4.3E-06; 3.0E-05 | 0.800 | 1.000 | 2 | 1999 | 2000 | ||||
|
2 | 0.925 | 0.080 | 3 | 48575419 | missense variant | C/T | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.790 | 0.120 | 3 | 48591527 | stop gained | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.776 | 0.120 | 3 | 48590817 | splice acceptor variant | C/T | snv | 0.700 | 0 |