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 | 19 | 39241107 | upstream gene variant | A/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 9 | 135561895 | missense variant | A/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.120 | 3 | 141744456 | intron variant | A/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.120 | 20 | 3271278 | intron variant | A/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
10 | 0.776 | 0.200 | 20 | 3213247 | intron variant | A/C | snv | 8.7E-02 | 9.7E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | |||
|
11 | 0.752 | 0.440 | 17 | 78364457 | intron variant | A/C;G | snv | 0.54 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.827 | 0.280 | 4 | 76021147 | 3 prime UTR variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
16 | 0.724 | 0.240 | 2 | 168973818 | missense variant | A/C;G;T | snv | 0.57 | 0.020 | 1.000 | 2 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.080 | 20 | 3204477 | intron variant | A/C;T | snv | 7.0E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 17 | 78367559 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
23 | 0.701 | 0.360 | 19 | 39241143 | upstream gene variant | A/G | snv | 0.36 | 0.870 | 1.000 | 9 | 2009 | 2017 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.030 | 1.000 | 3 | 2005 | 2011 | |||
|
34 | 0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 46713638 | intron variant | A/G | snv | 0.80 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.160 | 7 | 55152484 | intron variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.827 | 0.200 | 11 | 14888688 | intron variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
39 | 0.620 | 0.560 | 5 | 140633331 | intron variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 19 | 4841139 | intron variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.776 | 0.200 | 2 | 112013193 | intron variant | A/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
35 | 0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 19 | 39255579 | upstream gene variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 0.790 | 0.480 | 17 | 78357712 | 3 prime UTR variant | A/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
5 | 0.925 | 0.120 | 1 | 204156683 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 |