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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | |||
|
1 | 1.000 | 0.080 | 1 | 46713638 | intron variant | A/G | snv | 0.80 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
22 | 0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
33 | 0.653 | 0.560 | 1 | 203186754 | upstream gene variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
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 | ||||
|
16 | 0.724 | 0.240 | 2 | 168973818 | missense variant | A/C;G;T | snv | 0.57 | 0.020 | 1.000 | 2 | 2011 | 2017 | ||||
|
8 | 0.776 | 0.200 | 2 | 218136011 | 3 prime UTR variant | T/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 2 | 250470 | intron variant | T/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
13 | 0.732 | 0.360 | 2 | 162272314 | missense variant | T/C | snv | 0.68 | 0.68 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
10 | 0.776 | 0.200 | 2 | 112013193 | intron variant | A/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.827 | 0.120 | 3 | 141744456 | intron variant | A/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.030 | 1.000 | 3 | 2007 | 2012 | |||
|
5 | 0.827 | 0.200 | 4 | 166008836 | intron variant | A/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
38 | 0.645 | 0.480 | 4 | 71742666 | intron variant | T/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
51 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.807 | 0.240 | 4 | 76021790 | 3 prime UTR variant | C/G | snv | 0.61 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
35 | 0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.763 | 0.240 | 4 | 153704799 | missense variant | C/A | snv | 2.8E-02 | 2.8E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.827 | 0.280 | 4 | 76021147 | 3 prime UTR variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.882 | 0.160 | 5 | 179112381 | 3 prime UTR variant | G/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
39 | 0.620 | 0.560 | 5 | 140633331 | intron variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
25 | 0.683 | 0.560 | 5 | 35874473 | missense variant | C/T | snv | 0.23 | 0.21 | 0.010 | 1.000 | 1 | 2018 | 2018 |