Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.050 | 1.000 | 5 | 2004 | 2017 | |||||
|
27 | 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 | ||||
|
8 | 0.807 | 0.200 | 7 | 148811635 | missense variant | T/A;G | snv | 0.720 | 1.000 | 4 | 2012 | 2016 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2012 | 2015 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.030 | 1.000 | 3 | 2012 | 2015 | |||||
|
3 | 0.925 | 0.120 | 7 | 148809375 | missense variant | G/C | snv | 0.710 | 1.000 | 2 | 2012 | 2012 | |||||
|
57 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.720 | 1.000 | 2 | 2013 | 2017 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.807 | 0.160 | 2 | 29209816 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
27 | 0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
30 | 0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
50 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
45 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
18 | 0.716 | 0.400 | 4 | 1804372 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
23 | 0.689 | 0.200 | 15 | 90088606 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 1 | 3731497 | missense variant | G/A | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
5 | 0.851 | 0.120 | 15 | 90088681 | missense variant | A/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.120 | 17 | 7673749 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
19 | 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 | ||||
|
3 | 14 | 100734308 | synonymous variant | T/A;C | snv | 0.63 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
7 | 0.925 | 0.160 | 7 | 148811636 | missense variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |