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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.882 | 0.040 | 16 | 50722970 | intron variant | A/G | snv | 0.17 | 0.830 | 1.000 | 6 | 2007 | 2019 | ||||
|
2 | 0.716 | 0.400 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 1.5E-02 | 0.890 | 0.923 | 4 | 2005 | 2019 | ||||
|
6 | 0.763 | 0.480 | 18 | 12779948 | upstream gene variant | G/T | snv | 0.83 | 0.880 | 1.000 | 4 | 2007 | 2016 | ||||
|
2 | 0.925 | 0.120 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 0.700 | 1.000 | 4 | 2007 | 2012 | |||||
|
2 | 0.807 | 0.200 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 0.830 | 1.000 | 4 | 2007 | 2017 | |||||
|
1 | 0.752 | 0.400 | 1 | 67253446 | intron variant | G/A | snv | 0.41 | 0.800 | 1.000 | 3 | 2006 | 2007 | ||||
|
8 | 0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 | 0.850 | 1.000 | 3 | 2008 | 2016 | ||||
|
4 | 0.827 | 0.240 | 6 | 159069404 | intron variant | C/G;T | snv | 0.810 | 1.000 | 3 | 2010 | 2017 | |||||
|
2 | 0.752 | 0.320 | 9 | 114806486 | upstream gene variant | A/G | snv | 0.74 | 0.830 | 1.000 | 3 | 2005 | 2016 | ||||
|
3 | 0.851 | 0.240 | 5 | 159387525 | intron variant | A/C | snv | 0.78 | 0.810 | 1.000 | 2 | 2008 | 2014 | ||||
|
1 | 0.925 | 0.080 | 2 | 60990407 | intron variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2008 | 2011 | |||||
|
5 | 0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv | 0.850 | 1.000 | 2 | 2008 | 2016 | |||||
|
1 | 0.882 | 0.080 | 10 | 99528007 | non coding transcript exon variant | G/A | snv | 0.52 | 0.830 | 1.000 | 2 | 2007 | 2014 | ||||
|
2 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.850 | 1.000 | 2 | 2006 | 2020 | ||||
|
2 | 0.925 | 0.040 | 5 | 40410482 | upstream gene variant | T/C;G | snv | 0.800 | 1.000 | 2 | 2010 | 2017 | |||||
|
1 | 0.827 | 0.240 | 1 | 67209833 | intron variant | C/T | snv | 0.30 | 0.810 | 1.000 | 2 | 2007 | 2012 | ||||
|
7 | 0.827 | 0.200 | 2 | 60959694 | intron variant | A/G | snv | 0.50 | 0.800 | 1.000 | 2 | 2008 | 2012 | ||||
|
1 | 0.752 | 0.240 | 5 | 150843825 | upstream gene variant | T/C | snv | 0.21 | 0.850 | 1.000 | 2 | 2007 | 2015 | ||||
|
2 | 0.882 | 0.200 | 7 | 50264865 | upstream gene variant | C/T | snv | 0.67 | 0.800 | 1.000 | 2 | 2008 | 2017 | ||||
|
1 | 0.925 | 0.040 | 16 | 50705671 | intron variant | C/G | snv | 0.20 | 0.810 | 1.000 | 2 | 2007 | 2017 | ||||
|
1 | 0.882 | 0.120 | 5 | 40401407 | intergenic variant | T/G | snv | 0.14 | 0.810 | 1.000 | 2 | 2007 | 2010 | ||||
|
1 | 1.000 | 0.040 | 6 | 3433084 | intron variant | T/G | snv | 0.30 | 0.800 | 1.000 | 2 | 2008 | 2010 | ||||
|
1 | 1.000 | 0.040 | 21 | 15440233 | intron variant | C/A | snv | 0.33 | 0.800 | 1.000 | 2 | 2008 | 2010 | ||||
|
4 | 0.882 | 0.160 | 5 | 132435113 | intron variant | C/T | snv | 0.29 | 0.810 | 1.000 | 2 | 2008 | 2017 | ||||
|
4 | 0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv | 0.850 | 1.000 | 2 | 2006 | 2013 |