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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
29 | 0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 | 0.030 | 1.000 | 3 | 2010 | 2014 | ||||
|
16 | 0.724 | 0.240 | 2 | 168973818 | missense variant | A/C;G;T | snv | 0.57 | 0.020 | 1.000 | 2 | 2010 | 2014 | ||||
|
2 | 0.925 | 0.040 | 2 | 43877848 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.040 | 2 | 169018071 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 2 | 168969407 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 0.827 | 0.080 | 7 | 87426860 | missense variant | T/C;G | snv | 1.0E-01 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.790 | 0.280 | 2 | 43872294 | missense variant | C/A;T | snv | 0.21; 1.2E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.120 | 7 | 87452957 | missense variant | T/C | snv | 1.1E-02 | 9.2E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.040 | 2 | 169018074 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 2 | 43877845 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.120 | 2 | 21002962 | stop gained | C/A;T | snv | 8.2E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.040 | 2 | 168971917 | missense variant | G/C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 |