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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.890 | 0.909 | 11 | 1995 | 2018 | ||||
|
30 | 0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv | 0.730 | 0.667 | 3 | 1999 | 2018 | |||||
|
9 | 0.763 | 0.360 | 4 | 1799395 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
3 | 0.882 | 0.080 | 4 | 1807260 | stop lost | T/A;C;G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 4 | 1807262 | stop gained | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
10 | 0.763 | 0.280 | 4 | 1804362 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
45 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
31 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.240 | 4 | 1804365 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
18 | 0.716 | 0.400 | 4 | 1804372 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
21 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
30 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 4 | 1807261 | stop lost | G/T | snv | 0.700 | 0 | ||||||||
|
49 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.240 | 5 | 177096737 | missense variant | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
5 | 0.851 | 0.120 | 4 | 1806157 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
16 | 0.742 | 0.520 | 8 | 38414790 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2000 | 2000 |