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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.820 | 1.000 | 0 | 1999 | 2019 | ||||
|
35 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 0.800 | 1.000 | 0 | 1999 | 2001 | |||||
|
11 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.800 | 0 | ||||||||
|
9 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.800 | 1.000 | 0 | 1999 | 2001 | ||||
|
30 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
52 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
36 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
14 | 0.724 | 0.560 | 12 | 25209904 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
12 | 0.763 | 0.320 | 7 | 6005918 | missense variant | C/A;T | snv | 1.6E-04; 8.1E-06 | 0.700 | 0 | |||||||
|
16 | 0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.200 | 13 | 48459708 | missense variant | C/T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.160 | 16 | 68812189 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
15 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
17 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
30 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.200 | 13 | 48373493 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.320 | 11 | 108282838 | frameshift variant | TTATT/- | delins | 0.700 | 0 |