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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
32 | 0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 | 0.100 | 0.708 | 24 | 2002 | 2019 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.750 | 16 | 2004 | 2016 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.727 | 11 | 2004 | 2016 | |||||
|
10 | 0.790 | 0.080 | 1 | 182582202 | missense variant | A/C | snv | 0.54 | 0.49 | 0.080 | 0.875 | 8 | 2004 | 2019 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.050 | 1.000 | 5 | 2010 | 2018 | |||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.040 | 0.500 | 4 | 2009 | 2015 | |||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.030 | 0.667 | 3 | 2011 | 2017 | ||||
|
6 | 0.807 | 0.200 | 1 | 186680089 | intron variant | A/G | snv | 0.83 | 0.030 | 1.000 | 3 | 2007 | 2016 | ||||
|
21 | 0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 | 0.720 | 1.000 | 3 | 2013 | 2015 | ||||
|
13 | 0.732 | 0.200 | 1 | 182586014 | stop gained | C/A | snv | 3.6E-03; 4.0E-06 | 3.3E-03 | 0.030 | 1.000 | 3 | 2004 | 2005 | |||
|
4 | 0.851 | 0.120 | 1 | 119514623 | missense variant | C/A | snv | 0.75 | 0.020 | 1.000 | 2 | 2002 | 2007 | ||||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.020 | 1.000 | 2 | 2004 | 2005 | |||
|
39 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 0.020 | 0.500 | 2 | 2003 | 2014 | |||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.020 | 1.000 | 2 | 2003 | 2016 | |||
|
3 | 0.925 | 0.080 | 1 | 182569343 | downstream gene variant | C/T | snv | 0.24 | 0.020 | 1.000 | 2 | 2010 | 2013 | ||||
|
31 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.080 | 1 | 11195977 | 3 prime UTR variant | T/C | snv | 9.0E-02 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
12 | 0.732 | 0.360 | 1 | 236838504 | synonymous variant | C/T | snv | 1.6E-05 | 1.4E-05 | 0.020 | 1.000 | 2 | 2010 | 2013 | |||
|
20 | 0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv | 0.020 | 1.000 | 2 | 2012 | 2013 | |||||
|
2 | 0.925 | 0.080 | 1 | 119514623 | missense variant | C/A | snv | 0.76 | 0.020 | 1.000 | 2 | 2002 | 2007 | ||||
|
55 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 0.020 | 0.500 | 2 | 2008 | 2011 | |||||
|
8 | 0.827 | 0.160 | 1 | 7798075 | intron variant | G/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.882 | 0.120 | 1 | 11189075 | intron variant | G/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
19 | 0.708 | 0.280 | 1 | 241878999 | missense variant | G/A | snv | 0.36 | 0.40 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
9 | 0.807 | 0.200 | 1 | 15506048 | missense variant | T/A;C | snv | 0.53 | 0.010 | 1.000 | 1 | 2017 | 2017 |