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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 1.000 | 0.877 | 81 | 2005 | 2019 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.964 | 28 | 2001 | 2018 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.905 | 21 | 2004 | 2018 | |||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.850 | 0.889 | 9 | 2010 | 2019 | ||||
|
33 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 0.070 | 1.000 | 7 | 2004 | 2015 | |||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.070 | 0.714 | 7 | 2009 | 2020 | |||
|
1 | 1.000 | 0.120 | 1 | 17336144 | intron variant | T/C | snv | 0.56 | 0.54 | 0.770 | 1.000 | 7 | 2008 | 2017 | |||
|
14 | 0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv | 0.060 | 0.667 | 6 | 2008 | 2019 | |||||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.050 | 0.800 | 5 | 2008 | 2018 | ||||
|
3 | 0.925 | 0.120 | 1 | 198731313 | intron variant | G/A | snv | 0.21 | 0.740 | 1.000 | 5 | 2010 | 2016 | ||||
|
10 | 0.752 | 0.400 | 1 | 67253446 | intron variant | G/A | snv | 0.41 | 0.050 | 1.000 | 5 | 2009 | 2020 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.050 | 1.000 | 5 | 2010 | 2018 | |||
|
13 | 0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 | 0.050 | 1.000 | 5 | 2006 | 2016 | ||||
|
13 | 0.732 | 0.400 | 1 | 113852067 | missense variant | C/T | snv | 1.7E-02 | 1.6E-02 | 0.040 | 1.000 | 4 | 2011 | 2019 | |||
|
23 | 0.689 | 0.560 | 1 | 247425556 | missense variant | C/A | snv | 3.9E-02 | 3.3E-02 | 0.040 | 0.500 | 4 | 2010 | 2017 | |||
|
4 | 0.925 | 0.200 | 1 | 2622185 | intron variant | T/C | snv | 0.40 | 0.810 | 0.750 | 4 | 2008 | 2019 | ||||
|
26 | 0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 | 0.800 | 1.000 | 4 | 2007 | 2019 | ||||
|
19 | 0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.730 | 1.000 | 4 | 2010 | 2012 | |||||
|
5 | 0.827 | 0.240 | 1 | 67222666 | intron variant | T/C | snv | 0.48 | 0.030 | 1.000 | 3 | 2012 | 2020 | ||||
|
2 | 0.925 | 0.200 | 1 | 17331039 | missense variant | G/A | snv | 0.56 | 0.55 | 0.720 | 1.000 | 3 | 2007 | 2017 | |||
|
2 | 0.925 | 0.120 | 1 | 17336167 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.030 | 1.000 | 3 | 2014 | 2018 | ||||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.030 | 1.000 | 3 | 2010 | 2014 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.030 | 0.667 | 3 | 2007 | 2018 | |||
|
1 | 1.000 | 0.120 | 1 | 17348042 | synonymous variant | C/A | snv | 0.39 | 0.37 | 0.810 | 1.000 | 3 | 2011 | 2019 | |||
|
1 | 1.000 | 0.120 | 1 | 17346235 | intron variant | G/A | snv | 0.31 | 0.800 | 1.000 | 3 | 2014 | 2019 |