| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.200 | 17 | 43094776 | missense variant | C/T | snv | 8.0E-06 |
|
0.020 | 1.000 | 2 | 2005 | 2013 | ||||||||
|
0.925 | 0.120 | 19 | 54982828 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.851 | 0.160 | 12 | 913403 | stop gained | A/C | snv | 3.5E-02 | 2.1E-02 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||
|
0.882 | 0.120 | 11 | 101035002 | 3 prime UTR variant | A/T | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 |
|
0.030 | 1.000 | 3 | 2006 | 2013 | ||||||||
|
0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 |
|
0.030 | 1.000 | 3 | 2006 | 2010 | ||||||||
|
0.776 | 0.160 | 2 | 214752454 | missense variant | C/G;T | snv | 1.5E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.050 | 1.000 | 5 | 2007 | 2015 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.050 | 1.000 | 5 | 2007 | 2015 | |||||||||
|
0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv |
|
0.020 | 1.000 | 2 | 2007 | 2018 | |||||||||
|
0.827 | 0.160 | 17 | 43115759 | missense variant | G/A | snv |
|
0.020 | 0.500 | 2 | 2007 | 2010 | |||||||||
|
0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 |
|
0.020 | 1.000 | 2 | 2007 | 2013 | |||||||
|
0.790 | 0.200 | 17 | 43115759 | frameshift variant | G/- | delins |
|
0.020 | 0.500 | 2 | 2007 | 2010 | |||||||||
|
0.807 | 0.160 | 17 | 43115755 | frameshift variant | ACAGG/- | delins |
|
0.020 | 0.500 | 2 | 2007 | 2010 | |||||||||
|
0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.672 | 0.480 | 12 | 47908762 | intron variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.882 | 0.120 | 17 | 61758503 | intron variant | T/G | snv | 0.79 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.120 | 17 | 61847251 | intron variant | G/C | snv | 0.20 | 0.15 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.790 | 0.240 | 3 | 87061524 | intergenic variant | T/C | snv | 0.76 |
|
0.020 | 0.500 | 2 | 2008 | 2011 | ||||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.020 | 0.500 | 2 | 2008 | 2012 | |||||||
|
0.882 | 0.160 | 11 | 112153104 | non coding transcript exon variant | C/G | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2008 | 2008 |