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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.790 | 0.120 | 17 | 51161744 | missense variant | A/G | snv | 6.0E-05 | 7.0E-05 | 0.010 | 1.000 | 1 | 1995 | 1995 | |||
|
5 | 0.851 | 0.080 | 17 | 51171503 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 1995 | 1995 | |||||
|
8 | 0.851 | 0.200 | 17 | 7670700 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
10 | 0.807 | 0.080 | 12 | 68839587 | missense variant | A/G | snv | 1.5E-04 | 5.1E-04 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
10 | 0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
6 | 0.882 | 0.080 | 6 | 43774362 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
58 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 0.030 | 1.000 | 3 | 2004 | 2015 | |||
|
22 | 0.695 | 0.280 | 4 | 54733166 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
10 | 0.790 | 0.240 | 2 | 47410107 | missense variant | A/C;G;T | snv | 5.8E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
11 | 0.790 | 0.200 | 2 | 47416318 | missense variant | G/A;T | snv | 1.3E-02; 2.0E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
50 | 0.611 | 0.680 | 20 | 58909201 | synonymous variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.030 | 1.000 | 3 | 2006 | 2010 | |||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
10 | 0.827 | 0.120 | 8 | 42369287 | missense variant | C/G | snv | 1.1E-02 | 1.1E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 17 | 7676113 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
35 | 0.641 | 0.640 | 22 | 46218377 | missense variant | C/G | snv | 4.3E-02 | 4.2E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
5 | 0.882 | 0.120 | 17 | 7673255 | synonymous variant | G/A | snv | 5.3E-06 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
15 | 0.732 | 0.320 | 17 | 7674237 | missense variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.100 | 0.857 | 14 | 2010 | 2019 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 0.857 | 14 | 2010 | 2019 | |||||
|
31 | 0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.050 | 0.800 | 5 | 2011 | 2017 | ||||
|
13 | 0.827 | 0.200 | 14 | 102251978 | missense variant | A/G | snv | 1.4E-05 | 0.020 | 1.000 | 2 | 2011 | 2016 | ||||
|
29 | 0.689 | 0.440 | 3 | 138759306 | missense variant | T/C | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
13 | 0.807 | 0.080 | 5 | 143400101 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 |