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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 1.000 | 14 | 2000 | 2013 | |||
|
47 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 0.070 | 1.000 | 7 | 1999 | 2019 | |||
|
41 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.060 | 1.000 | 6 | 1999 | 2012 | ||||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.030 | 1.000 | 3 | 2008 | 2012 | |||
|
10 | 0.776 | 0.120 | 1 | 55057454 | missense variant | G/A;C;T | snv | 7.2E-05 | 0.030 | 1.000 | 3 | 2010 | 2018 | ||||
|
27 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 0.020 | 1.000 | 2 | 2006 | 2008 | ||||
|
39 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 0.020 | 1.000 | 2 | 2010 | 2015 | |||
|
28 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 0.020 | 1.000 | 2 | 2009 | 2019 | ||||
|
14 | 0.742 | 0.240 | 1 | 169726729 | missense variant | G/A | snv | 4.5E-02 | 3.3E-02 | 0.020 | 1.000 | 2 | 1999 | 2019 | |||
|
11 | 0.763 | 0.320 | 1 | 156136984 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.020 | 1.000 | 2 | 1999 | 2007 | |||
|
3 | 0.882 | 0.040 | 1 | 163143470 | 3 prime UTR variant | G/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.851 | 0.040 | 1 | 201376359 | intron variant | G/A | snv | 0.27 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.080 | 1 | 176206716 | missense variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
31 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 1 | 150579475 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
11 | 0.790 | 0.200 | 1 | 222650187 | intron variant | A/C;G;T | snv | 0.64; 6.4E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
7 | 0.790 | 0.160 | 1 | 34795168 | missense variant | C/G;T | snv | 0.30 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
28 | 0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 |