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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.100 | 0.800 | 15 | 1997 | 2012 | |||
|
51 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 0.090 | 0.778 | 9 | 2000 | 2015 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.050 | 0.600 | 5 | 2005 | 2016 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.050 | 0.800 | 5 | 2004 | 2014 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.050 | 0.800 | 5 | 2004 | 2014 | ||||
|
37 | 0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 | 0.030 | 1.000 | 3 | 2006 | 2010 | ||||
|
59 | 0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 | 0.030 | 1.000 | 3 | 2006 | 2010 | |||
|
24 | 0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 | 0.030 | 1.000 | 3 | 2001 | 2005 | |||
|
2 | 0.925 | 0.120 | 1 | 21899250 | intron variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2010 | 2018 | |||||
|
4 | 0.851 | 0.200 | 16 | 69718516 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2008 | 2010 | |||||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.020 | 0.500 | 2 | 2008 | 2010 | |||
|
36 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.020 | 1.000 | 2 | 2007 | 2013 | |||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.020 | 1.000 | 2 | 2005 | 2009 | |||
|
23 | 0.677 | 0.360 | 13 | 46834899 | missense variant | G/A | snv | 7.9E-02 | 9.5E-02 | 0.020 | 0.500 | 2 | 2001 | 2005 | |||
|
2 | 0.925 | 0.120 | 11 | 113424539 | missense variant | G/A | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2008 | 2008 | ||||
|
15 | 0.724 | 0.560 | 3 | 49357413 | missense variant | A/G | snv | 4.1E-06 | 0.020 | 0.500 | 2 | 2006 | 2010 | ||||
|
3 | 0.882 | 0.160 | 17 | 4719343 | synonymous variant | C/T | snv | 0.71 | 0.62 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
19 | 0.695 | 0.360 | 22 | 42130692 | missense variant | G/A | snv | 0.21 | 0.19 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
9 | 0.776 | 0.280 | 10 | 22550699 | missense variant | T/C | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.160 | 10 | 92690015 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
4 | 0.851 | 0.160 | 17 | 74923048 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
6 | 0.807 | 0.280 | 12 | 104321110 | missense variant | C/T | snv | 7.1E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.160 | 12 | 104215828 | missense variant | T/C | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.120 | 1 | 66183851 | intron variant | C/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.160 | 11 | 27701009 | 5 prime UTR variant | G/A;T | snv | 8.4E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 |