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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.732 | 0.280 | 4 | 24800161 | missense variant | G/C | snv | 1.6E-04 | 2.1E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
33 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.200 | 19 | 3595925 | missense variant | G/A | snv | 0.22 | 0.15 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 3 | 152834401 | upstream gene variant | C/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.160 | 12 | 57140687 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 10 | 95069772 | upstream gene variant | A/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.732 | 0.480 | 9 | 121006922 | missense variant | C/T | snv | 0.47 | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
26 | 0.683 | 0.360 | 4 | 24800212 | missense variant | C/G | snv | 2.3E-02 | 1.2E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
48 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.160 | 17 | 47310917 | 3 prime UTR variant | A/G | snv | 9.4E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.752 | 0.280 | 4 | 24799693 | missense variant | G/A;T | snv | 0.55 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
16 | 0.732 | 0.160 | 6 | 160540105 | missense variant | T/C | snv | 5.6E-02 | 3.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
26 | 0.695 | 0.520 | 9 | 22098575 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
14 | 0.742 | 0.240 | 1 | 169726729 | missense variant | G/A | snv | 4.5E-02 | 3.3E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
27 | 0.683 | 0.360 | 10 | 113588287 | missense variant | G/A | snv | 2.2E-02 | 2.4E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
4 | 0.925 | 0.080 | 9 | 22087474 | non coding transcript exon variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
8 | 0.851 | 0.200 | 1 | 46931231 | intron variant | C/T | snv | 9.4E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 |