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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.800 | 1.000 | 20 | 2006 | 2019 | ||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.760 | 1.000 | 7 | 2006 | 2019 | ||||
|
44 | 0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv | 0.730 | 1.000 | 3 | 2014 | 2019 | |||||
|
16 | 0.732 | 0.240 | 3 | 179218307 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
19 | 0.716 | 0.240 | 3 | 179218295 | missense variant | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
37 | 0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
23 | 0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 3 | 179199743 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.160 | 3 | 179218439 | intron variant | T/G | snv | 7.9E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 3 | 179234232 | synonymous variant | C/T | snv | 2.1E-02 | 1.5E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
11 | 0.763 | 0.280 | 3 | 179148620 | intron variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
14 | 0.732 | 0.280 | 3 | 179199690 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
8 | 0.776 | 0.200 | 3 | 179179886 | intron variant | C/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2018 | 2018 |