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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1 | 80373593 | non coding transcript exon variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1 | 8035440 | intron variant | T/G | snv | 0.27 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||||
|
9 | 0.827 | 0.280 | 1 | 171114102 | missense variant | A/G | snv | 0.15 | 0.14 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
7 | 0.851 | 0.200 | 1 | 171107825 | missense variant | G/A | snv | 0.37 | 0.41 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.080 | 1 | 226361797 | non coding transcript exon variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
15 | 0.742 | 0.480 | 1 | 159715306 | upstream gene variant | C/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.882 | 0.120 | 1 | 159710123 | upstream gene variant | G/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
23 | 0.689 | 0.560 | 1 | 247425556 | missense variant | C/A | snv | 3.9E-02 | 3.3E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
5 | 0.925 | 0.120 | 1 | 204159515 | synonymous variant | A/G | snv | 8.0E-06 | 3.5E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
17 | 0.716 | 0.400 | 1 | 173206693 | intron variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
35 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
9 | 0.851 | 0.080 | 1 | 154449591 | intron variant | T/C | snv | 0.60 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.925 | 0.080 | 1 | 230159944 | intron variant | G/A | snv | 0.45 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
12 | 0.763 | 0.280 | 1 | 11847591 | missense variant | C/T | snv | 5.6E-02 | 5.3E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
12 | 0.763 | 0.240 | 1 | 11846011 | stop lost | A/G | snv | 0.14 | 0.21 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
55 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
14 | 0.742 | 0.240 | 1 | 169726729 | missense variant | G/A | snv | 4.5E-02 | 3.3E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1 | 147468451 | intron variant | -/GTTCCTTC | delins | 0.42 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
13 | 0.742 | 0.360 | 1 | 223111186 | missense variant | A/G | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
7 | 0.851 | 0.240 | 1 | 147773383 | upstream gene variant | T/A | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
27 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
43 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
22 | 0.851 | 0.120 | 1 | 109275684 | 3 prime UTR variant | G/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.763 | 0.240 | 1 | 115286692 | missense variant | G/A | snv | 0.37 | 0.36 | 0.010 | 1.000 | 1 | 2018 | 2018 |