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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.070 | 1.000 | 7 | 2006 | 2018 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.060 | 1.000 | 6 | 2004 | 2014 | ||||
|
42 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 0.060 | 1.000 | 6 | 2012 | 2019 | ||||
|
4 | 0.882 | 0.080 | 7 | 140753338 | inframe insertion | -/TAG | delins | 4.0E-06 | 0.700 | 1.000 | 6 | 2009 | 2012 | ||||
|
3 | 0.882 | 0.160 | 7 | 55174818 | missense variant | G/A;T | snv | 0.700 | 1.000 | 5 | 2006 | 2014 | |||||
|
27 | 0.672 | 0.400 | 12 | 25227341 | missense variant | T/A;G | snv | 4.0E-06 | 0.720 | 1.000 | 5 | 2002 | 2018 | ||||
|
31 | 0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 | 0.050 | 1.000 | 5 | 2007 | 2011 | ||||
|
1 | 1.000 | 0.080 | 17 | 39724748 | inframe insertion | -/GGGCTCCCC | delins | 0.700 | 1.000 | 5 | 2005 | 2012 | |||||
|
55 | 0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 | 0.050 | 1.000 | 5 | 2004 | 2013 | ||||
|
6 | 0.827 | 0.080 | 15 | 66435113 | missense variant | A/C | snv | 0.720 | 1.000 | 4 | 1995 | 2016 | |||||
|
10 | 0.851 | 0.080 | 2 | 29220747 | missense variant | C/T | snv | 0.040 | 1.000 | 4 | 2014 | 2019 | |||||
|
24 | 0.672 | 0.440 | 12 | 25227342 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 4 | 2002 | 2008 | |||||
|
25 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 4 | 2002 | 2013 | |||||
|
12 | 0.790 | 0.280 | 7 | 140753346 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2004 | 2012 | ||||
|
14 | 0.742 | 0.320 | 12 | 25245348 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 4 | 2002 | 2013 | |||||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.040 | 0.750 | 4 | 2003 | 2015 | ||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.040 | 0.750 | 4 | 2006 | 2016 | ||||
|
64 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 0.040 | 1.000 | 4 | 2015 | 2019 | ||||
|
3 | 0.882 | 0.280 | 12 | 25227345 | missense variant | C/A | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2006 | 2013 | ||||
|
8 | 0.827 | 0.120 | 2 | 29222347 | missense variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2014 | 2016 | |||||
|
6 | 0.925 | 0.080 | 6 | 117317184 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2015 | 2019 | |||||
|
32 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 3 | 2002 | 2008 | |||||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.030 | 1.000 | 3 | 2011 | 2014 | ||||
|
50 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.700 | 1.000 | 3 | 2002 | 2013 | ||||
|
17 | 0.732 | 0.240 | 12 | 25227343 | missense variant | G/C;T | snv | 0.700 | 1.000 | 3 | 2002 | 2009 |