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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2008 | 2014 | |||||
|
23 | 0.672 | 0.560 | 4 | 122456825 | upstream gene variant | A/C | snv | 0.24 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 4 | 122459250 | upstream gene variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | 2 | 135833176 | missense variant | C/A;G;T | snv | 4.8E-05; 0.24 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 0.882 | 0.080 | X | 139530843 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 1989 | 1989 | |||||
|
2 | 0.925 | 0.080 | X | 139537145 | missense variant | G/A | snv | 5.5E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | X | 139551113 | missense variant | G/A | snv | 5.5E-06 | 9.5E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.925 | 0.080 | X | 139560852 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.080 | X | 139561566 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | X | 139561664 | missense variant | C/G | snv | 5.5E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.080 | X | 139561710 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | X | 139561754 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | X | 139561821 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 5 | 150111245 | intron variant | C/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | X | 154837622 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | X | 154837676 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 2 | 2011 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 154837677 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 154837685 | missense variant | C/G;T | snv | 0.800 | 1.000 | 22 | 1989 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 154837686 | missense variant | G/A;C | snv | 0.800 | 1.000 | 22 | 1989 | 2013 | |||||
|
2 | 0.925 | 0.080 | X | 154837697 | missense variant | G/A | snv | 0.800 | 1.000 | 22 | 1989 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 154837698 | missense variant | G/A | snv | 5.5E-06 | 0.810 | 1.000 | 3 | 2009 | 2013 | ||||
|
1 | 1.000 | 0.080 | X | 154837735 | frameshift variant | GATTT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 154860467 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 154860497 | missense variant | A/T | snv | 5.5E-06 | 0.700 | 1.000 | 20 | 1989 | 2002 |