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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.040 | 20 | 58078668 | regulatory region variant | -/A | delins | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 16 | 56963437 | intron variant | -/A | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.040 | 9 | 70823689 | intron variant | -/C;CC | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.040 | 22 | 32688525 | intron variant | A/C | snv | 5.8E-02 | 0.730 | 1.000 | 6 | 2010 | 2019 | ||||
|
9 | 0.827 | 0.080 | 1 | 196710325 | intron variant | A/C | snv | 0.44 | 0.800 | 1.000 | 4 | 2010 | 2013 | ||||
|
1 | 1.000 | 0.040 | 22 | 32688525 | intron variant | A/C | snv | 0.700 | 1.000 | 3 | 2010 | 2011 | |||||
|
3 | 0.882 | 0.200 | 6 | 31943672 | missense variant | A/C | snv | 4.1E-06 | 0.030 | 1.000 | 3 | 2006 | 2009 | ||||
|
1 | 1.000 | 0.040 | 1 | 196685194 | synonymous variant | A/C | snv | 0.68 | 0.62 | 0.810 | 1.000 | 2 | 2007 | 2013 | |||
|
2 | 1.000 | 0.040 | 1 | 196686613 | intron variant | A/C | snv | 0.64 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 1 | 196704863 | intron variant | A/C | snv | 0.62 | 0.800 | 1.000 | 2 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196556184 | intron variant | A/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.040 | 17 | 28322698 | intron variant | A/C | snv | 0.54 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 10 | 122363954 | regulatory region variant | A/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 3 | 39281672 | missense variant | A/C | snv | 0.42 | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 4 | 109764627 | missense variant | A/C | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 18 | 64751208 | intergenic variant | A/C | snv | 0.41 | 0.710 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196640266 | intergenic variant | A/C | snv | 6.9E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196946615 | intron variant | A/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.827 | 0.120 | 9 | 104899461 | intron variant | A/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 10 | 122399534 | intron variant | A/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 42911868 | intergenic variant | A/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.200 | 1 | 42935767 | intron variant | A/C | snv | 0.66 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 196875463 | intron variant | A/C;G | snv | 0.38 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
7 | 0.790 | 0.280 | 19 | 51746419 | missense variant | A/C;G | snv | 0.32; 0.13 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 6 | 116125413 | missense variant | A/C;G | snv | 0.37 | 0.010 | 1.000 | 1 | 2019 | 2019 |