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 | 0.160 | 19 | 7267871 | missense variant | G/T | snv | 0.810 | 1.000 | 7 | 1990 | 2017 | |||||
|
2 | 0.925 | 0.160 | 19 | 7184583 | missense variant | T/C | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 7 | 1990 | 2017 | |||
|
1 | 1.000 | 0.160 | 19 | 7172402 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 7 | 1990 | 2017 | |||
|
2 | 0.925 | 0.160 | 19 | 7184524 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 7 | 1990 | 2017 | ||||
|
1 | 1.000 | 0.160 | 19 | 7141726 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 1.000 | 7 | 1990 | 2017 | ||||
|
1 | 1.000 | 0.160 | 19 | 7122671 | missense variant | G/A | snv | 0.710 | 1.000 | 1 | 1999 | 1999 | |||||
|
2 | 0.925 | 0.160 | 19 | 7122893 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.160 | 19 | 7267603 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.160 | 19 | 7172436 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 19 | 7142871 | frameshift variant | GTCCTGGT/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 19 | 7125462 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 |