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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | |||||
|
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 | |||
|
2 | 0.925 | 0.120 | 11 | 113424539 | missense variant | G/A | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2008 | 2008 | ||||
|
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 | |||
|
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 | ||||
|
2 | 0.925 | 0.120 | 22 | 42130763 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.851 | 0.200 | 22 | 19962555 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
27 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
17 | 0.708 | 0.200 | 1 | 19666020 | synonymous variant | C/T | snv | 0.15; 8.0E-06 | 0.16 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
8 | 0.776 | 0.200 | 12 | 13564574 | synonymous variant | G/A | snv | 0.32 | 0.24 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.120 | 1 | 66337397 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 |