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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 19 | 3615409 | non coding transcript exon variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2006 | 2015 | |||||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2000 | 2009 | ||||
|
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 | |||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.020 | 1.000 | 2 | 2004 | 2010 | ||||
|
82 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2003 | 2009 | |||||
|
6 | 0.851 | 0.160 | 13 | 30758410 | intron variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2012 | 2014 | |||||
|
16 | 0.732 | 0.240 | 20 | 23048087 | missense variant | G/A;T | snv | 0.19 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.120 | 19 | 15174241 | synonymous variant | T/A;C | snv | 0.86 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
41 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.851 | 0.280 | X | 154013378 | missense variant | G/A | snv | 0.67 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
24 | 0.683 | 0.320 | 17 | 80385145 | missense variant | G/A;C | snv | 2.6E-04; 8.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.120 | 2 | 182757711 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
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 | |||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
11 | 0.763 | 0.160 | 16 | 73017721 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 0.851 | 0.240 | 12 | 102477481 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.200 | 19 | 3604731 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
23 | 0.695 | 0.440 | 13 | 30463766 | 5 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 4 | 26415514 | missense variant | T/A;C;G | snv | 0.57 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
14 | 0.752 | 0.280 | 4 | 24799693 | missense variant | G/A;T | snv | 0.55 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
11 | 0.752 | 0.360 | X | 154010439 | downstream gene variant | C/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 |