| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.080 | 19 | 17641880 | intron variant | A/C | snv | 0.36 |
|
0.880 | 0.923 | 8 | 2009 | 2019 | ||||||||
|
0.776 | 0.200 | 9 | 27543283 | non coding transcript exon variant | T/A;C | snv |
|
0.870 | 1.000 | 7 | 2009 | 2018 | |||||||||
|
0.882 | 0.080 | 1 | 170026661 | intron variant | C/A;T | snv |
|
0.830 | 1.000 | 3 | 2009 | 2014 | |||||||||
|
0.882 | 0.120 | 9 | 27536399 | non coding transcript exon variant | C/G;T | snv |
|
0.830 | 1.000 | 3 | 2009 | 2014 | |||||||||
|
0.925 | 0.080 | 7 | 154513713 | intron variant | T/C | snv | 0.35 |
|
0.820 | 0.667 | 2 | 2008 | 2011 | ||||||||
|
1.000 | 0.080 | 21 | 31545981 | intron variant | C/T | snv | 0.14 |
|
0.810 | 1.000 | 1 | 2010 | 2014 | ||||||||
|
1.000 | 0.080 | 4 | 86911448 | intron variant | G/A | snv | 0.40 |
|
0.810 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 10 | 127476239 | intergenic variant | T/C | snv | 0.41 |
|
0.810 | 1.000 | 1 | 2007 | 2009 | ||||||||
|
0.925 | 0.080 | 1 | 209539544 | intron variant | T/C | snv | 0.48 |
|
0.810 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 17 | 16342702 | 3 prime UTR variant | A/C | snv | 0.38 |
|
0.810 | 1.000 | 1 | 2013 | 2014 | ||||||||
|
0.882 | 0.120 | 22 | 24186073 | missense variant | A/G | snv | 8.1E-02 | 9.8E-02 |
|
0.810 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 14 | 30678292 | intron variant | C/T | snv | 0.46 |
|
0.720 | 0.750 | 2 | 2016 | 2019 | ||||||||
|
1.000 | 0.080 | 5 | 151031274 | intron variant | C/T | snv | 0.66 |
|
0.710 | 1.000 | 1 | 2017 | 2018 | ||||||||
|
1.000 | 0.080 | 9 | 27529318 | non coding transcript exon variant | G/A | snv | 0.39 |
|
0.710 | 1.000 | 1 | 2010 | 2013 | ||||||||
|
0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 |
|
0.100 | 0.995 | 416 | 1996 | 2020 | ||||||||
|
0.732 | 0.200 | 21 | 31667290 | missense variant | A/C;T | snv | 1.4E-03 | 1.2E-03 |
|
0.100 | 1.000 | 30 | 1995 | 2020 | |||||||
|
0.732 | 0.080 | 20 | 58418318 | missense variant | C/T | snv | 4.0E-06 |
|
0.100 | 0.944 | 18 | 2006 | 2019 | ||||||||
|
0.742 | 0.160 | 21 | 31663829 | missense variant | G/A;C | snv |
|
0.100 | 1.000 | 17 | 1997 | 2017 | |||||||||
|
0.763 | 0.120 | 1 | 11022352 | splice acceptor variant | G/A | snv | 4.0E-06 |
|
0.100 | 1.000 | 14 | 2011 | 2019 | ||||||||
|
0.827 | 0.080 | 21 | 31667274 | missense variant | G/A;C | snv |
|
0.100 | 1.000 | 13 | 2000 | 2019 | |||||||||
|
0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv |
|
0.100 | 1.000 | 13 | 2002 | 2018 | |||||||||
|
0.827 | 0.120 | 6 | 24357658 | missense variant | C/T | snv | 8.1E-06 |
|
0.100 | 1.000 | 13 | 2006 | 2020 | ||||||||
|
0.732 | 0.160 | 21 | 31663857 | missense variant | A/G | snv |
|
0.100 | 0.917 | 12 | 1994 | 2017 | |||||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.100 | 0.636 | 11 | 2007 | 2016 | |||||||
|
0.790 | 0.120 | 12 | 102475722 | synonymous variant | C/T | snv | 1.2E-05 | 4.9E-05 |
|
0.100 | 1.000 | 11 | 2007 | 2018 |