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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 0.807 | 0.240 | 16 | 53775335 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.776 | 0.280 | 17 | 6999441 | missense variant | A/G | snv | 0.60 | 0.62 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.925 | 0.160 | 12 | 56042145 | 5 prime UTR variant | C/A;G;T | snv | 8.0E-06; 8.0E-06; 0.62; 1.1E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
13 | 0.732 | 0.360 | 1 | 169707345 | missense variant | A/G | snv | 0.21 | 0.22 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
2 | 1.000 | 0.120 | 3 | 172505900 | 3 prime UTR variant | T/C | snv | 0.70 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.160 | 3 | 172505830 | 3 prime UTR variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | 2 | 3558251 | missense variant | G/A;C | snv | 4.9E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
14 | 0.732 | 0.520 | 16 | 31265490 | missense variant | G/A | snv | 9.7E-02 | 0.11 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.120 | 14 | 23034812 | missense variant | G/A | snv | 6.6E-02 | 5.9E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
27 | 0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 0.925 | 0.240 | 12 | 21304500 | missense variant | T/G | snv | 4.5E-02 | 4.4E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
27 | 0.672 | 0.480 | 12 | 47908762 | intron variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.120 | 12 | 56342206 | 3 prime UTR variant | G/T | snv | 4.5E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.882 | 0.240 | 17 | 5521757 | missense variant | T/C | snv | 0.45 | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.851 | 0.200 | 4 | 186069983 | intron variant | A/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
12 | 0.732 | 0.480 | 2 | 191079016 | intron variant | C/T | snv | 0.21 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.360 | 2 | 170853979 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
5 | 0.827 | 0.200 | 17 | 63483937 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.200 | 1 | 167479867 | intron variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.807 | 0.280 | 17 | 39869164 | intron variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 1 | 113875583 | intron variant | A/C | snv | 0.58 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 1 | 113814589 | 3 prime UTR variant | G/A | snv | 0.78 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 1 | 113859282 | intron variant | T/G | snv | 0.56 | 0.010 | 1.000 | 1 | 2014 | 2014 |