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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.030 | 0.667 | 3 | 1999 | 2015 | |||||
|
10 | 0.807 | 0.160 | X | 71167508 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
12 | 0.790 | 0.400 | X | 71127367 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
23 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.700 | 0 | |||||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.100 | 1.000 | 12 | 2008 | 2018 | |||
|
6 | 0.851 | 0.160 | 22 | 50626976 | missense variant | A/C | snv | 2.3E-04 | 2.8E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
17 | 0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2000 | 2010 | |||||
|
4 | 0.925 | 0.040 | 21 | 33028155 | 3 prime UTR variant | C/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 21 | 45216929 | intron variant | C/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
51 | 0.695 | 0.360 | 21 | 37472869 | frameshift variant | TAAC/- | delins | 0.700 | 0 | ||||||||
|
17 | 0.742 | 0.240 | 20 | 63349782 | missense variant | G/A;C | snv | 0.47; 6.1E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.776 | 0.200 | 20 | 4699875 | missense variant | G/A | snv | 8.0E-03 | 2.2E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 1.000 | 0.040 | 19 | 1391362 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 18 | 4127583 | intron variant | A/C;T | snv | 0.22 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.050 | 0.200 | 5 | 2007 | 2020 | ||||
|
42 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2016 | 2019 | |||||
|
16 | 0.776 | 0.120 | 17 | 46010388 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2011 | 2016 | |||||
|
5 | 0.925 | 0.080 | 17 | 45807036 | synonymous variant | C/T | snv | 3.1E-02 | 3.0E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
9 | 0.807 | 0.200 | 17 | 30224647 | intron variant | G/A | snv | 0.34 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
8 | 0.827 | 0.160 | 17 | 30197786 | 3 prime UTR variant | A/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.827 | 0.200 | 17 | 30224840 | intron variant | C/T | snv | 6.8E-02 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
16 | 0.732 | 0.280 | 17 | 30222880 | 5 prime UTR variant | G/C;T | snv | 0.010 | < 0.001 | 1 | 2020 | 2020 | |||||
|
7 | 0.827 | 0.160 | 17 | 30196708 | 3 prime UTR variant | G/T | snv | 0.49 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
6 | 0.851 | 0.120 | 16 | 31191419 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
34 | 0.716 | 0.520 | 16 | 8901028 | frameshift variant | CT/- | delins | 0.700 | 0 |