| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.040 | 1.000 | 4 | 2001 | 2013 | |||||||
|
0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 |
|
0.020 | 1.000 | 2 | 2003 | 2009 | |||||||
|
0.701 | 0.240 | 1 | 179557079 | missense variant | C/T | snv | 3.0E-02 | 2.8E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.827 | 0.280 | 1 | 54999325 | missense variant | G/A | snv | 1.0E-04 | 1.5E-04 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.763 | 0.200 | 2 | 227253336 | missense variant | G/A;T | snv | 2.8E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.763 | 0.400 | 2 | 191105394 | intron variant | C/G | snv | 0.77 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.662 | 0.640 | 3 | 10289773 | missense variant | G/T | snv | 8.8E-02 | 7.1E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.080 | 4 | 76447694 | intron variant | G/A | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 4 | 76181009 | frameshift variant | -/G | delins |
|
0.700 | 0 | ||||||||||||
|
0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.827 | 0.240 | 7 | 95411704 | missense variant | G/C | snv | 0.27 | 0.27 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.080 | 7 | 95424695 | intron variant | T/G | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.742 | 0.520 | 7 | 100719675 | upstream gene variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.080 | 7 | 131509412 | stop gained | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 7 | 139715976 | synonymous variant | G/C | snv | 0.27 | 0.37 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.677 | 0.440 | 7 | 95405463 | missense variant | G/C | snv | 0.27 | 0.27 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.882 | 0.200 | 9 | 132911492 | frameshift variant | -/A;AA | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 10 | 99797141 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.160 | 10 | 97611535 | missense variant | G/A;T | snv | 2.0E-05; 1.1E-04 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.160 | 10 | 97599780 | missense variant | C/T | snv | 4.4E-05 | 7.0E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 |
|
0.700 | 0 | ||||||||||
|
0.763 | 0.280 | 12 | 88083936 | stop gained | T/A | snv | 5.5E-05 | 9.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.240 | 12 | 88062772 | frameshift variant | C/- | del | 4.7E-05; 5.2E-06 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 14 | 104703445 | stop gained | G/A;C;T | snv | 4.0E-06 |
|
0.700 | 0 |