| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.160 | 1 | 161306785 | missense variant | G/A;T | snv |
|
0.760 | 1.000 | 0 | 1999 | 2004 | |||||||||
|
0.851 | 0.120 | 1 | 156135268 | missense variant | C/T | snv | 3.6E-05 | 2.8E-05 |
|
0.730 | 1.000 | 0 | 2003 | 2008 | |||||||
|
0.851 | 0.080 | 8 | 74360184 | missense variant | C/T | snv | 7.0E-06 |
|
0.720 | 1.000 | 0 | 2010 | 2015 | ||||||||
|
0.827 | 0.080 | 12 | 119187080 | missense variant | G/C;T | snv |
|
0.720 | 1.000 | 0 | 2006 | 2017 | |||||||||
|
0.807 | 0.080 | 5 | 149026872 | stop gained | G/A | snv | 7.5E-04; 4.0E-06 | 6.6E-04 |
|
0.710 | 1.000 | 5 | 2003 | 2014 | |||||||
|
0.827 | 0.080 | 1 | 11992689 | missense variant | C/T | snv |
|
0.710 | 1.000 | 4 | 2008 | 2014 | |||||||||
|
0.827 | 0.080 | 12 | 119187078 | missense variant | A/C;G | snv |
|
0.710 | 1.000 | 0 | 2006 | 2006 | |||||||||
|
0.827 | 0.160 | 1 | 161307268 | missense variant | T/A | snv |
|
0.710 | 1.000 | 0 | 2000 | 2000 | |||||||||
|
0.882 | 0.080 | 19 | 49830790 | missense variant | C/T | snv | 3.8E-03 | 4.3E-03 |
|
0.710 | 1.000 | 0 | 2009 | 2009 | |||||||
|
0.882 | 0.080 | 16 | 70268356 | missense variant | C/T | snv |
|
0.710 | 1.000 | 0 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 9 | 127502846 | frameshift variant | -/GC | delins |
|
0.710 | 1.000 | 0 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 7 | 76303817 | missense variant | G/A;T | snv | 4.0E-06 | 2.8E-05 |
|
0.700 | 1.000 | 5 | 2004 | 2014 | |||||||
|
0.807 | 0.240 | 1 | 156138719 | missense variant | C/A;T | snv | 1.2E-03 |
|
0.700 | 1.000 | 2 | 2008 | 2014 | ||||||||
|
0.925 | 0.160 | 18 | 79710825 | intron variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.925 | 0.080 | 1 | 161306719 | frameshift variant | TACA/- | delins |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.080 | 1 | 161306900 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 5 | 149038339 | frameshift variant | G/- | del |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.120 | MT | 9185 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.080 | 19 | 10797424 | missense variant | A/G | snv | 1.1E-04 | 1.0E-04 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.080 | 1 | 12001423 | missense variant | G/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.882 | 0.080 | 14 | 101980506 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.080 | 8 | 1882687 | missense variant | G/A;C | snv | 1.8E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 14 | 101985925 | missense variant | G/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 5 | 149028348 | stop gained | C/A | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 8 | 74364305 | frameshift variant | -/T | delins | 4.0E-06 | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 |