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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.160 | 5 | 177093286 | synonymous variant | G/A;C | snv | 1.5E-04; 8.2E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
58 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.925 | 0.120 | 8 | 41510767 | 3 prime UTR variant | T/G | snv | 0.93 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.020 | 1.000 | 2 | 2009 | 2013 | |||
|
6 | 0.827 | 0.160 | 11 | 119095811 | upstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
11 | 0.763 | 0.240 | 6 | 32607958 | intergenic variant | A/G | snv | 8.8E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
51 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
17 | 0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.020 | 1.000 | 2 | 2010 | 2015 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.120 | 1 | 206773822 | intron variant | C/T | snv | 0.41 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.240 | 11 | 118001371 | 3 prime UTR variant | G/A;T | snv | 0.51 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 3 | 159989088 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.120 | 5 | 159323135 | missense variant | C/T | snv | 3.8E-04 | 1.5E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.120 | 5 | 159326751 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
52 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
29 | 0.658 | 0.400 | 1 | 206776020 | intron variant | A/T | snv | 0.32 | 0.020 | 1.000 | 2 | 2007 | 2009 | ||||
|
1 | 1.000 | 0.120 | 2 | 113119202 | intron variant | G/A | snv | 0.53 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 5 | 132679861 | missense variant | G/A | snv | 3.2E-05 | 8.4E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
5 | 0.851 | 0.240 | 5 | 132544224 | intron variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.790 | 0.120 | 5 | 35871088 | missense variant | G/A | snv | 0.64 | 0.72 | 0.010 | 1.000 | 1 | 2011 | 2011 |