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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
44 | 0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 | 0.860 | 0.800 | 10 | 2007 | 2019 | ||||
|
13 | 0.742 | 0.480 | 12 | 56088396 | intron variant | T/G | snv | 0.65 | 0.830 | 1.000 | 7 | 2007 | 2019 | ||||
|
10 | 0.752 | 0.360 | 10 | 6059750 | intron variant | T/A;C | snv | 0.070 | 1.000 | 7 | 2007 | 2017 | |||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.070 | 0.571 | 7 | 2008 | 2015 | ||||
|
14 | 0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 | 0.830 | 0.667 | 6 | 2009 | 2019 | ||||
|
25 | 0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 | 0.060 | 0.833 | 6 | 2009 | 2019 | ||||
|
11 | 0.763 | 0.480 | 18 | 12779948 | upstream gene variant | G/T | snv | 0.83 | 0.830 | 1.000 | 6 | 2007 | 2015 | ||||
|
19 | 0.695 | 0.320 | 10 | 6056986 | intron variant | C/T | snv | 0.46 | 0.750 | 1.000 | 6 | 2007 | 2015 | ||||
|
26 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.050 | 1.000 | 5 | 2008 | 2015 | |||||
|
7 | 0.807 | 0.320 | 16 | 11086016 | intron variant | A/G | snv | 0.37 | 0.800 | 1.000 | 5 | 2007 | 2011 | ||||
|
8 | 0.790 | 0.360 | 10 | 6072697 | upstream gene variant | C/A | snv | 6.1E-02 | 0.050 | 0.600 | 5 | 2009 | 2015 | ||||
|
26 | 0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 | 0.810 | 1.000 | 5 | 2007 | 2015 | ||||
|
9 | 0.776 | 0.240 | 10 | 6080046 | intergenic variant | T/A | snv | 0.18 | 0.040 | 0.750 | 4 | 2009 | 2015 | ||||
|
5 | 0.851 | 0.200 | 12 | 56018703 | intron variant | T/G | snv | 0.25 | 0.830 | 1.000 | 4 | 2008 | 2013 | ||||
|
18 | 0.827 | 0.240 | 12 | 112049014 | intron variant | A/G | snv | 0.30 | 0.810 | 1.000 | 4 | 2007 | 2010 | ||||
|
6 | 0.807 | 0.360 | 16 | 11144926 | intron variant | G/A | snv | 0.33 | 0.840 | 1.000 | 4 | 2007 | 2010 | ||||
|
1 | 1.000 | 0.120 | 18 | 12835977 | intron variant | T/C | snv | 0.35 | 0.040 | 1.000 | 4 | 2011 | 2019 | ||||
|
20 | 0.689 | 0.520 | 4 | 122588266 | regulatory region variant | G/T | snv | 0.10 | 0.040 | 0.750 | 4 | 2007 | 2013 | ||||
|
4 | 0.851 | 0.240 | 16 | 11075826 | intron variant | T/G | snv | 0.42 | 0.740 | 1.000 | 4 | 2007 | 2013 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.040 | 0.750 | 4 | 2007 | 2019 | |||||
|
7 | 0.827 | 0.240 | 11 | 2148913 | intron variant | G/A | snv | 0.37 | 0.810 | 1.000 | 3 | 2007 | 2017 | ||||
|
9 | 0.807 | 0.240 | 21 | 42416077 | intron variant | G/A | snv | 0.28 | 0.810 | 1.000 | 3 | 2009 | 2012 | ||||
|
5 | 0.851 | 0.360 | 6 | 90248512 | intron variant | C/G | snv | 0.36 | 0.800 | 1.000 | 3 | 2008 | 2011 | ||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.030 | 1.000 | 3 | 2008 | 2008 | |||||
|
48 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 0.030 | 1.000 | 3 | 2013 | 2017 |