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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
40 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.240 | 12 | 1787714 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 21 | 45531642 | synonymous variant | A/G | snv | 0.58 | 0.57 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.120 | 17 | 41811190 | missense variant | T/A;C | snv | 0.38 | 0.34 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
11 | 0.763 | 0.120 | 20 | 23048144 | missense variant | A/G | snv | 1.0E-04 | 2.8E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
4 | 0.882 | 0.160 | 9 | 22061615 | intron variant | A/G | snv | 0.73 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.020 | 1.000 | 2 | 2008 | 2014 | ||||
|
31 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 0.020 | 1.000 | 2 | 2014 | 2018 | |||||
|
26 | 0.683 | 0.360 | 4 | 24800212 | missense variant | C/G | snv | 2.3E-02 | 1.2E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.200 | 2 | 88126256 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
28 | 0.658 | 0.640 | 9 | 117707776 | intron variant | A/G | snv | 0.62 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.807 | 0.160 | 9 | 104825752 | missense variant | C/T | snv | 8.2E-02 | 5.5E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
54 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 0.020 | 1.000 | 2 | 2008 | 2017 | ||||
|
2 | 0.925 | 0.120 | 12 | 102419854 | intron variant | C/T | snv | 2.8E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 4 | 26322296 | splice region variant | G/C | snv | 8.9E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.763 | 0.160 | 16 | 73017721 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
20 | 0.742 | 0.280 | 19 | 15879621 | missense variant | C/T | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
6 | 0.851 | 0.240 | 12 | 102477481 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
13 | 0.742 | 0.200 | 7 | 101126257 | upstream gene variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2018 | 2018 |