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 | 1.000 | 0.200 | 5 | 96776379 | 3 prime UTR variant | T/A;G | snv | 3.3E-05; 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.280 | 1 | 211329427 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.200 | 18 | 21028924 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.200 | 18 | 20959861 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.200 | 18 | 20967783 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
8 | 0.790 | 0.360 | 11 | 61008737 | missense variant | C/G;T | snv | 4.2E-06; 0.31 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.807 | 0.280 | 1 | 247424041 | missense variant | G/A;C | snv | 8.3E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.882 | 0.280 | 1 | 211379722 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
25 | 0.677 | 0.520 | 11 | 71456403 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.320 | 16 | 10878023 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.200 | 6 | 52187730 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.200 | 22 | 31278338 | missense variant | C/G;T | snv | 6.4E-03; 1.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.200 | 7 | 150549936 | intergenic variant | C/G;T | snv | 0.710 | 1.000 | 1 | 2013 | 2013 | |||||
|
31 | 0.649 | 0.520 | 20 | 46014472 | missense variant | G/A;C | snv | 0.16 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.200 | 8 | 17642610 | splice region variant | C/G;T | snv | 8.0E-06; 0.11 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.763 | 0.320 | 7 | 150992855 | intron variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.200 | 9 | 5465036 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
46 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.200 | 7 | 30456766 | synonymous variant | G/A;C;T | snv | 1.6E-05; 0.28 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.763 | 0.400 | 2 | 241851121 | synonymous variant | A/C;G | snv | 1.6E-04; 0.63 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
24 | 0.667 | 0.520 | 20 | 46013767 | missense variant | G/C;T | snv | 0.88; 1.6E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.763 | 0.480 | 1 | 113872746 | intron variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.200 | 6 | 30992490 | downstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 |