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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
6 | 0.882 | 0.040 | 6 | 15656839 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.040 | 7 | 114083210 | upstream gene variant | C/T | snv | 0.17 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
6 | 0.882 | 0.160 | 14 | 20472447 | missense variant | G/A | snv | 0.19 | 0.21 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
41 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 9 | 76036575 | intron variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
8 | 0.807 | 0.120 | 10 | 81889983 | intron variant | T/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 1.000 | 0.040 | 11 | 27673917 | intron variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.790 | 0.240 | 9 | 133639992 | splice region variant | A/G | snv | 0.45 | 0.54 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.882 | 0.160 | 1 | 45332409 | missense variant | A/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.160 | 3 | 165837337 | synonymous variant | C/T | snv | 5.6E-02 | 5.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.882 | 0.160 | 6 | 3010156 | missense variant | C/T | snv | 0.79 | 0.84 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
4 | 0.851 | 0.080 | 12 | 40320099 | missense variant | T/A | snv | 0.30 | 0.27 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
2 | 1.000 | 0.040 | 11 | 27736075 | intron variant | A/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 19 | 44899959 | intron variant | C/G;T | snv | 2.9E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 12 | 128054737 | intron variant | C/G;T | snv | 1.9E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.925 | 0.040 | 6 | 34182850 | intergenic variant | T/C | snv | 0.99 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.080 | 2 | 25262866 | intron variant | C/T | snv | 0.45 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.080 | 6 | 151808263 | synonymous variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.120 | X | 21967312 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.040 | 21 | 25955652 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
8 | 0.790 | 0.120 | 16 | 31191418 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.851 | 0.120 | 10 | 87057692 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 |