| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.020 | 1.000 | 2 | 2008 | 2010 | ||||||||
|
0.925 | 0.120 | 1 | 206778859 | intron variant | C/A;G | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.120 | 5 | 157494947 | intron variant | A/G | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.658 | 0.400 | 1 | 206776020 | intron variant | A/T | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.280 | 6 | 32212119 | intron variant | C/T | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.240 | 4 | 73740952 | intron variant | T/G | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.724 | 0.360 | 6 | 32465390 | intron variant | G/T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 1 | 207766701 | intron variant | G/T | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.160 | 1 | 206779403 | intron variant | T/A | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.120 | 14 | 52274253 | intron variant | A/G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.120 | 14 | 103018488 | intron variant | T/C | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 6 | 14636732 | intergenic variant | T/C | snv | 0.74 |
|
0.810 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.763 | 0.240 | 6 | 32607958 | intergenic variant | A/G | snv | 8.8E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.050 | 1.000 | 5 | 2004 | 2017 | |||||||||
|
0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 |
|
0.040 | 1.000 | 4 | 2013 | 2019 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 2012 | 2015 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.030 | 1.000 | 3 | 2004 | 2017 | |||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.030 | 1.000 | 3 | 2012 | 2015 | |||||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.030 | 0.333 | 3 | 2004 | 2017 | |||||||
|
0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.720 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.020 | 1.000 | 2 | 2004 | 2011 | |||||||
|
0.807 | 0.200 | 7 | 148811635 | missense variant | T/A;G | snv |
|
0.720 | 1.000 | 2 | 2012 | 2016 | |||||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
0.020 | 1.000 | 2 | 2013 | 2015 |