| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.405 | 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 | ||||||||
|
0.807 | 0.200 | 7 | 148811635 | missense variant | T/A;G | snv |
|
0.720 | 1.000 | 4 | 2012 | 2016 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 2012 | 2015 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.030 | 1.000 | 3 | 2012 | 2015 | |||||||||
|
0.925 | 0.120 | 7 | 148809375 | missense variant | G/C | snv |
|
0.710 | 1.000 | 2 | 2012 | 2012 | |||||||||
|
0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.720 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.807 | 0.160 | 2 | 29209816 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.716 | 0.400 | 4 | 1804372 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.689 | 0.200 | 15 | 90088606 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 1 | 3731497 | missense variant | G/A | snv | 1.6E-05 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.851 | 0.120 | 15 | 90088681 | missense variant | A/C | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 17 | 7673749 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.701 | 0.360 | 9 | 97697296 | 5 prime UTR variant | T/C;G | snv | 0.63; 4.5E-06; 4.5E-06 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
14 | 100734308 | synonymous variant | T/A;C | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||||
|
0.925 | 0.160 | 7 | 148811636 | missense variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 |