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 | 0.120 | 9 | 128636919 | missense variant | G/A | snv | 4.1E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.080 | 4 | 127669126 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 19946549 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 4 | 127700059 | missense variant | A/C | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 14 | 76083470 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 19953834 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.120 | 2 | 19969556 | missense variant | C/A | snv | 2.4E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 212863771 | missense variant | A/C;G | snv | 2.4E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 14 | 75985788 | start lost | T/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 6 | 53032573 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 20 | 43613959 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 20 | 43624000 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 19951417 | frameshift variant | G/- | del | 8.1E-06 | 1.4E-05 | 0.700 | 0 |