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 | 0.950 | 6 | 2004 | 2020 | |||||||
|
0.807 | 0.320 | 16 | 11086016 | intron variant | A/G | snv | 0.37 |
|
0.800 | 1.000 | 5 | 2007 | 2011 | ||||||||
|
0.742 | 0.480 | 12 | 56088396 | intron variant | T/G | snv | 0.65 |
|
0.830 | 1.000 | 4 | 2007 | 2019 | ||||||||
|
0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 |
|
0.860 | 0.800 | 4 | 2007 | 2019 | ||||||||
|
0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 |
|
0.810 | 1.000 | 4 | 2007 | 2015 | ||||||||
|
0.827 | 0.240 | 12 | 112049014 | intron variant | A/G | snv | 0.30 |
|
0.810 | 1.000 | 3 | 2007 | 2010 | ||||||||
|
0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 |
|
0.900 | 0.955 | 3 | 2007 | 2018 | |||||||
|
0.763 | 0.480 | 18 | 12779948 | upstream gene variant | G/T | snv | 0.83 |
|
0.830 | 1.000 | 3 | 2007 | 2015 | ||||||||
|
0.827 | 0.240 | 11 | 2148913 | intron variant | G/A | snv | 0.37 |
|
0.810 | 1.000 | 2 | 2007 | 2017 | ||||||||
|
0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 |
|
0.900 | 0.917 | 2 | 2007 | 2015 | ||||||||
|
0.790 | 0.320 | 6 | 32636595 | intron variant | G/A | snv | 0.54 |
|
0.810 | 1.000 | 2 | 2007 | 2015 | ||||||||
|
0.925 | 0.120 | 6 | 32830954 | intron variant | C/G;T | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2007 | 2015 | ||||||||
|
1.000 | 0.120 | 12 | 9703362 | upstream gene variant | T/G | snv | 0.42 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.807 | 0.320 | 12 | 56076841 | 5 prime UTR variant | C/T | snv | 0.49 |
|
0.810 | 1.000 | 1 | 2007 | 2011 | ||||||||
|
0.742 | 0.440 | 6 | 31951083 | non coding transcript exon variant | A/G | snv | 7.5E-02 |
|
0.800 | 1.000 | 1 | 2007 | 2015 | ||||||||
|
0.776 | 0.400 | 6 | 32395438 | intron variant | T/C | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2007 | 2015 | ||||||||
|
0.827 | 0.240 | 6 | 31396930 | upstream gene variant | G/A | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2007 | 2015 | ||||||||
|
0.827 | 0.280 | 6 | 30110498 | missense variant | C/T | snv | 0.12 | 0.12 |
|
0.800 | 1.000 | 1 | 2007 | 2015 | |||||||
|
0.882 | 0.240 | 6 | 32700133 | intergenic variant | G/A | snv | 0.10 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.827 | 0.320 | 6 | 31600692 | intergenic variant | G/A | snv | 0.27 |
|
0.800 | 1.000 | 1 | 2007 | 2015 | ||||||||
|
0.807 | 0.360 | 16 | 11144926 | intron variant | G/A | snv | 0.33 |
|
0.840 | 1.000 | 1 | 2007 | 2010 | ||||||||
|
1.000 | 0.120 | 11 | 2148544 | non coding transcript exon variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.120 | 12 | 9681032 | splice region variant | C/T | snv | 0.46 | 0.50 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.695 | 0.320 | 10 | 6056986 | intron variant | C/T | snv | 0.46 |
|
0.750 | 1.000 | 1 | 2007 | 2015 | ||||||||
|
0.925 | 0.120 | 11 | 2191936 | regulatory region variant | C/T | snv | 0.29 |
|
0.800 | 1.000 | 1 | 2007 | 2009 |