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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.280 | 4 | 10000237 | intron variant | G/A | snv | 0.72 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.851 | 0.240 | 4 | 10048517 | intron variant | C/T | snv | 0.77 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.160 | 12 | 121625105 | upstream gene variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.240 | 12 | 121631099 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.120 | 12 | 121638011 | intron variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
13 | 0.732 | 0.400 | 3 | 122170241 | downstream gene variant | A/G | snv | 0.60 | 0.060 | 1.000 | 6 | 2011 | 2019 | ||||
|
2 | 0.925 | 0.120 | 3 | 122183002 | upstream gene variant | G/A | snv | 0.61 | 0.030 | 1.000 | 3 | 2013 | 2019 | ||||
|
8 | 0.790 | 0.240 | 3 | 122188481 | intron variant | A/G | snv | 0.62 | 0.040 | 1.000 | 4 | 2011 | 2019 | ||||
|
18 | 0.724 | 0.360 | 3 | 122274400 | intron variant | A/G | snv | 0.11 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
39 | 0.633 | 0.600 | 3 | 122284910 | missense variant | G/T | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
23 | 0.672 | 0.360 | 3 | 122284922 | missense variant | A/G | snv | 0.15 | 9.0E-02 | 0.060 | 1.000 | 6 | 2006 | 2019 | |||
|
9 | 0.763 | 0.240 | 3 | 122284955 | missense variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
13 | 0.732 | 0.280 | 3 | 122284985 | missense variant | G/C | snv | 0.95 | 0.92 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.120 | 11 | 13491818 | downstream gene variant | A/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 11 | 13491931 | downstream gene variant | G/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 9 | 137232889 | missense variant | C/G;T | snv | 4.5E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.240 | 9 | 137233223 | missense variant | C/G;T | snv | 4.4E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.120 | 7 | 139715976 | synonymous variant | G/C | snv | 0.27 | 0.37 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 7 | 139754366 | intron variant | A/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 7 | 142912681 | missense variant | A/C | snv | 0.020 | 1.000 | 2 | 2015 | 2017 | |||||
|
3 | 0.882 | 0.120 | 7 | 142929454 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.120 | 12 | 14851655 | intron variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.925 | 0.120 | 12 | 14882147 | missense variant | T/A;C | snv | 0.37 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 12 | 14912889 | downstream gene variant | A/G | snv | 0.47 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2019 | 2019 |