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 | 0.080 | 22 | 18918380 | missense variant | C/A | snv | 9.4E-04 | 1.1E-03 | 0.800 | 0 | ||||||
|
1 | 1.000 | 0.080 | 22 | 18913492 | missense variant | G/A;C;T | snv | 1.0E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 22 | 18918464 | missense variant | C/T | snv | 3.8E-02 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 22 | 18918329 | missense variant | C/T | snv | 4.9E-02; 4.0E-06 | 5.5E-02 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 22 | 18918346 | missense variant | G/A | snv | 4.6E-03 | 3.3E-03 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.120 | 22 | 18918386 | missense variant | G/A | snv | 1.1E-02 | 0.800 | 0 | |||||||
|
4 | 0.851 | 0.280 | 22 | 18913491 | missense variant | C/T | snv | 0.93 | 2.8E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 22 | 18922389 | missense variant | A/T | snv | 3.6E-03 | 0.700 | 1.000 | 3 | 2002 | 2007 | ||||
|
3 | 0.925 | 0.120 | 22 | 18918451 | missense variant | C/T | snv | 7.2E-02 | 0.800 | 1.000 | 3 | 2002 | 2007 | ||||
|
8 | 0.776 | 0.160 | 22 | 18918421 | missense variant | A/G | snv | 5.2E-03 | 2.8E-03 | 0.810 | 1.000 | 4 | 2002 | 2018 | |||
|
7 | 0.790 | 0.280 | 13 | 32332796 | frameshift variant | -/CT | ins | 0.010 | 1.000 | 1 | 2018 | 2018 |