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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.120 | 17 | 63488758 | missense variant | G/A | snv | 1.2E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.882 | 0.160 | 5 | 179112381 | 3 prime UTR variant | G/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 0.160 | 1 | 203129147 | synonymous variant | T/G | snv | 0.31 | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
11 | 0.827 | 0.200 | 22 | 24429543 | non coding transcript exon variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.925 | 0.080 | 10 | 111078794 | missense variant | C/G;T | snv | 1.9E-03 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
8 | 0.790 | 0.400 | 1 | 35897874 | intron variant | G/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
38 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
8 | 0.807 | 0.280 | 11 | 67479201 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.925 | 0.080 | 10 | 5009340 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
8 | 0.807 | 0.120 | 11 | 113393764 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.925 | 0.080 | 11 | 13297040 | intron variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.925 | 0.080 | 11 | 13369313 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.925 | 0.080 | 11 | 13324747 | intron variant | T/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.925 | 0.080 | 11 | 13363769 | intron variant | A/G | snv | 0.53 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.080 | 22 | 19966309 | intron variant | A/G | snv | 0.88 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
14 | 0.752 | 0.240 | 22 | 19968597 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
5 | 0.851 | 0.080 | 8 | 20208538 | intron variant | G/A;C;T | snv | 0.18 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.080 | 1 | 206116320 | missense variant | C/G;T | snv | 5.0E-02; 2.8E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.851 | 0.120 | 11 | 27700188 | 5 prime UTR variant | G/A | snv | 5.9E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.080 | 11 | 27700731 | 5 prime UTR variant | G/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.917 | 84 | 2003 | 2020 |