| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
1.000 | 0.877 | 8 | 2005 | 2019 | |||||||
|
1.000 | 0.120 | 1 | 113851126 | intron variant | A/G | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 1 | 113858609 | intron variant | A/G | snv | 0.53 | 0.57 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.120 | 1 | 113875221 | intron variant | G/A;T | snv |
|
0.710 | 1.000 | 1 | 2009 | 2017 | |||||||||
|
0.925 | 0.200 | 1 | 113877706 | 3 prime UTR variant | C/A;T | snv |
|
0.710 | 0.500 | 1 | 2009 | 2010 | |||||||||
|
1.000 | 0.120 | 1 | 113877840 | 3 prime UTR variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 13 | 113896878 | intron variant | C/G;T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.120 | 13 | 113919624 | non coding transcript exon variant | -/G | ins |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.120 | 13 | 113919624 | non coding transcript exon variant | A/G;T | snv | 0.17; 7.4E-06 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.120 | 11 | 11482681 | intron variant | G/A | snv | 3.6E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.240 | 8 | 11484371 | upstream gene variant | T/C | snv | 0.26 |
|
0.800 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 |
|
0.830 | 1.000 | 1 | 2009 | 2017 | ||||||||
|
1.000 | 0.120 | 8 | 115801679 | intron variant | G/A | snv | 0.54 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.120 | 8 | 115852272 | intergenic variant | T/C | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.160 | 1 | 116720516 | regulatory region variant | C/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 1 | 116721168 | regulatory region variant | T/A;C | snv |
|
0.810 | 1.000 | 1 | 2013 | 2019 | |||||||||
|
1.000 | 0.120 | 16 | 11745470 | upstream gene variant | G/T | snv | 0.56 |
|
0.800 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
1.000 | 0.120 | 11 | 118741072 | intron variant | G/A;T | snv | 0.25 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 11 | 118858682 | intergenic variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2014 | 2019 | |||||||||
|
0.851 | 0.280 | 11 | 118871133 | regulatory region variant | C/T | snv | 0.79 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 11 | 11999069 | intron variant | C/T | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.120 | 9 | 120400388 | intron variant | A/G | snv | 0.21 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 9 | 120873843 | intron variant | C/A | snv | 0.47 |
|
0.800 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
1.000 | 0.120 | 9 | 120878222 | intron variant | T/C | snv | 0.68 |
|
0.710 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
1.000 | 0.120 | 9 | 120881577 | intron variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 2 | 2007 | 2009 |