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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.120 | 8 | 42695355 | upstream gene variant | C/T | snv | 0.64 | 0.020 | 1.000 | 2 | 2012 | 2017 | ||||
|
4 | 0.882 | 0.080 | 8 | 42688874 | intergenic variant | A/G | snv | 0.66 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 8 | 42694839 | upstream gene variant | G/A | snv | 0.66 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.925 | 0.080 | 8 | 42691568 | intergenic variant | A/G | snv | 0.64 | 0.710 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 3 | 114120575 | intergenic variant | A/T | snv | 0.53 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 8 | 30015821 | regulatory region variant | T/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.827 | 0.160 | 19 | 40852719 | intron variant | T/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 1.000 | 0.080 | 7 | 108908603 | upstream gene variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 8 | 42751043 | downstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
20 | 0.724 | 0.240 | 4 | 99339632 | missense variant | T/A;C | snv | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.827 | 0.160 | 4 | 99428512 | missense variant | C/G | snv | 8.5E-02; 4.9E-04 | 7.8E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.030 | 1.000 | 3 | 2009 | 2017 | |||
|
1 | 1.000 | 0.080 | 11 | 113395026 | missense variant | C/T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 11 | 113399438 | missense variant | A/C;G | snv | 4.5E-06; 0.39 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 11 | 113396169 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 11 | 6412919 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.160 | 21 | 25975126 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.882 | 0.120 | 22 | 19968169 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
6 | 0.827 | 0.120 | 11 | 27705368 | intron variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.160 | 11 | 27710436 | intron variant | G/A | snv | 0.49 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.020 | 1.000 | 2 | 2015 | 2015 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 11 | 27681641 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.080 | 7 | 2921775 | intron variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 |