| 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 | 0.040 | 16 | 50722970 | intron variant | A/G | snv | 0.17 |
|
0.830 | 1.000 | 6 | 2007 | 2019 | ||||||||
|
0.716 | 0.400 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 1.5E-02 |
|
0.890 | 0.923 | 4 | 2005 | 2019 | ||||||||
|
0.763 | 0.480 | 18 | 12779948 | upstream gene variant | G/T | snv | 0.83 |
|
0.880 | 1.000 | 4 | 2007 | 2016 | ||||||||
|
0.925 | 0.120 | 16 | 50729868 | frameshift variant | C/-;CC | delins |
|
0.700 | 1.000 | 4 | 2007 | 2012 | |||||||||
|
0.807 | 0.200 | 16 | 50729868 | frameshift variant | C/-;CC | delins |
|
0.830 | 1.000 | 4 | 2007 | 2017 | |||||||||
|
0.752 | 0.400 | 1 | 67253446 | intron variant | G/A | snv | 0.41 |
|
0.800 | 1.000 | 3 | 2006 | 2007 | ||||||||
|
0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 |
|
0.850 | 1.000 | 3 | 2008 | 2016 | ||||||||
|
0.827 | 0.240 | 6 | 159069404 | intron variant | C/G;T | snv |
|
0.810 | 1.000 | 3 | 2010 | 2017 | |||||||||
|
0.752 | 0.320 | 9 | 114806486 | upstream gene variant | A/G | snv | 0.74 |
|
0.830 | 1.000 | 3 | 2005 | 2016 | ||||||||
|
0.851 | 0.240 | 5 | 159387525 | intron variant | A/C | snv | 0.78 |
|
0.810 | 1.000 | 2 | 2008 | 2014 | ||||||||
|
0.925 | 0.080 | 2 | 60990407 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 2 | 2008 | 2011 | |||||||||
|
0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv |
|
0.850 | 1.000 | 2 | 2008 | 2016 | |||||||||
|
0.882 | 0.080 | 10 | 99528007 | non coding transcript exon variant | G/A | snv | 0.52 |
|
0.830 | 1.000 | 2 | 2007 | 2014 | ||||||||
|
0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 |
|
0.850 | 1.000 | 2 | 2006 | 2020 | ||||||||
|
0.925 | 0.040 | 5 | 40410482 | upstream gene variant | T/C;G | snv |
|
0.800 | 1.000 | 2 | 2010 | 2017 | |||||||||
|
0.827 | 0.240 | 1 | 67209833 | intron variant | C/T | snv | 0.30 |
|
0.810 | 1.000 | 2 | 2007 | 2012 | ||||||||
|
0.827 | 0.200 | 2 | 60959694 | intron variant | A/G | snv | 0.50 |
|
0.800 | 1.000 | 2 | 2008 | 2012 | ||||||||
|
0.752 | 0.240 | 5 | 150843825 | upstream gene variant | T/C | snv | 0.21 |
|
0.850 | 1.000 | 2 | 2007 | 2015 | ||||||||
|
0.882 | 0.200 | 7 | 50264865 | upstream gene variant | C/T | snv | 0.67 |
|
0.800 | 1.000 | 2 | 2008 | 2017 | ||||||||
|
0.925 | 0.040 | 16 | 50705671 | intron variant | C/G | snv | 0.20 |
|
0.810 | 1.000 | 2 | 2007 | 2017 | ||||||||
|
0.882 | 0.120 | 5 | 40401407 | intergenic variant | T/G | snv | 0.14 |
|
0.810 | 1.000 | 2 | 2007 | 2010 | ||||||||
|
1.000 | 0.040 | 6 | 3433084 | intron variant | T/G | snv | 0.30 |
|
0.800 | 1.000 | 2 | 2008 | 2010 | ||||||||
|
1.000 | 0.040 | 21 | 15440233 | intron variant | C/A | snv | 0.33 |
|
0.800 | 1.000 | 2 | 2008 | 2010 | ||||||||
|
0.882 | 0.160 | 5 | 132435113 | intron variant | C/T | snv | 0.29 |
|
0.810 | 1.000 | 2 | 2008 | 2017 | ||||||||
|
0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv |
|
0.850 | 1.000 | 2 | 2006 | 2013 |