| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.240 | 13 | 32336684 | frameshift variant | -/A | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 13 | 32340176 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 10 | 110280017 | missense variant | A/C | snv |
|
0.800 | 1.000 | 5 | 2008 | 2015 | |||||||||
|
0.851 | 0.240 | 4 | 94593458 | intron variant | A/C | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 8 | 127094635 | intron variant | A/C | snv | 0.17 |
|
0.780 | 1.000 | 1 | 2008 | 2017 | ||||||||
|
0.925 | 0.080 | 17 | 49619281 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 22 | 28734506 | stop gained | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.160 | 11 | 69228491 | intergenic variant | A/C;G | snv |
|
0.700 | 1.000 | 3 | 2009 | 2013 | |||||||||
|
1.000 | 0.080 | 8 | 3389886 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.827 | 0.160 | 19 | 50861367 | upstream gene variant | A/C;G | snv |
|
0.800 | 0.923 | 1 | 2008 | 2019 | |||||||||
|
0.882 | 0.160 | 11 | 2212344 | intergenic variant | A/C;G | snv |
|
0.710 | 1.000 | 1 | 2009 | 2012 | |||||||||
|
0.851 | 0.200 | 22 | 28725241 | splice donor variant | A/C;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv |
|
0.800 | 0.917 | 8 | 2007 | 2018 | |||||||||
|
0.925 | 0.080 | 3 | 113556777 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 5 | 75596275 | missense variant | A/C;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.280 | 10 | 46046326 | 5 prime UTR variant | A/G | snv | 0.54 |
|
0.800 | 1.000 | 4 | 2008 | 2019 | ||||||||
|
0.827 | 0.200 | 11 | 69227200 | intergenic variant | A/G | snv | 0.53 |
|
0.720 | 1.000 | 3 | 2008 | 2013 | ||||||||
|
0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2008 | 2013 | ||||||||
|
1.000 | 0.080 | 10 | 46057646 | regulatory region variant | A/G | snv | 0.45 |
|
0.700 | 1.000 | 2 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 8 | 127098007 | intron variant | A/G | snv | 0.13 |
|
0.730 | 1.000 | 2 | 2008 | 2016 | ||||||||
|
0.925 | 0.080 | 3 | 87085650 | upstream gene variant | A/G | snv | 7.1E-02 |
|
0.700 | 1.000 | 2 | 2008 | 2012 | ||||||||
|
0.790 | 0.280 | 17 | 37738049 | intron variant | A/G | snv | 0.52 |
|
0.800 | 1.000 | 2 | 2008 | 2018 | ||||||||
|
0.882 | 0.160 | X | 51486831 | downstream gene variant | A/G | snv |
|
0.730 | 1.000 | 2 | 2008 | 2010 | |||||||||
|
0.882 | 0.160 | 6 | 160160342 | downstream gene variant | A/G | snv | 0.69 |
|
0.700 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
0.732 | 0.240 | 8 | 127412547 | intron variant | A/G | snv | 0.63 |
|
0.710 | 1.000 | 2 | 2008 | 2015 |