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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.030 | 1.000 | 3 | 2013 | 2015 | |||
|
24 | 0.667 | 0.520 | 20 | 46013767 | missense variant | G/C;T | snv | 0.88; 1.6E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 0.020 | 0.500 | 2 | 2010 | 2017 | |||
|
7 | 0.807 | 0.280 | X | 154018741 | missense variant | A/G | snv | 0.72 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
12 | 0.742 | 0.360 | 18 | 62360008 | missense variant | C/T | snv | 0.54 | 0.56 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
21 | 0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
73 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
12 | 0.763 | 0.280 | 15 | 43475576 | missense variant | G/C;T | snv | 0.36; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
13 | 0.742 | 0.320 | 4 | 101918130 | missense variant | G/A | snv | 0.31 | 0.30 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
40 | 0.620 | 0.400 | 10 | 94306584 | missense variant | A/G | snv | 0.28 | 0.31 | 0.020 | 1.000 | 2 | 2011 | 2011 | |||
|
10 | 0.776 | 0.320 | 1 | 159714396 | intron variant | T/A;C | snv | 0.28 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
45 | 0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
38 | 0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 | 0.020 | 1.000 | 2 | 2000 | 2016 | |||
|
14 | 0.732 | 0.520 | 16 | 31265490 | missense variant | G/A | snv | 9.7E-02 | 0.11 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
12 | 0.763 | 0.280 | 3 | 50332115 | missense variant | C/A | snv | 9.6E-02 | 8.0E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
55 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
9 | 0.807 | 0.280 | 16 | 78432540 | missense variant | C/G | snv | 7.1E-02 | 7.4E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.030 | 0.667 | 3 | 2010 | 2014 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.020 | 1.000 | 2 | 2010 | 2014 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
11 | 0.752 | 0.360 | 19 | 41341955 | missense variant | G/A | snv | 2.6E-02 | 2.3E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 |