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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 17 | 43092010 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
12 | 0.763 | 0.280 | 17 | 43063930 | missense variant | C/A;G;T | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.763 | 0.280 | 17 | 43063931 | missense variant | G/A;T | snv | 2.4E-05; 8.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 17 | 43095919 | splice acceptor variant | ACAC/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
7 | 0.851 | 0.200 | 13 | 32356461 | missense variant | T/C | snv | 1.9E-02 | 8.5E-03 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
9 | 0.776 | 0.280 | 13 | 32338277 | stop gained | G/A;T | snv | 5.6E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
5 | 0.827 | 0.240 | 13 | 32363389 | missense variant | G/A;T | snv | 7.9E-04 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
5 | 0.827 | 0.200 | 13 | 32376769 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
4 | 0.882 | 0.120 | 13 | 32380096 | stop gained | T/A;C | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
2 | 0.925 | 0.120 | 17 | 61683780 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.120 | 22 | 43528870 | missense variant | G/A | snv | 1.2E-04 | 1.0E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
8 | 0.776 | 0.280 | 16 | 13935697 | missense variant | C/G;T | snv | 1.2E-05; 6.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.200 | 16 | 13928149 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 16 | 89746848 | missense variant | T/C;G | snv | 8.7E-05 | 0.800 | 1.000 | 17 | 1997 | 2015 | ||||
|
2 | 0.925 | 0.120 | 16 | 89749806 | missense variant | G/A;T | snv | 2.0E-05; 1.2E-05 | 0.800 | 1.000 | 17 | 1997 | 2017 | ||||
|
2 | 0.925 | 0.120 | 16 | 89791459 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.800 | 1.000 | 16 | 1997 | 2016 | |||
|
2 | 0.925 | 0.120 | 16 | 89746890 | missense variant | T/C | snv | 2.5E-05 | 5.6E-05 | 0.800 | 1.000 | 14 | 1997 | 2012 | |||
|
2 | 0.925 | 0.120 | 16 | 89765062 | missense variant | T/G | snv | 1.2E-05 | 7.0E-06 | 0.800 | 1.000 | 13 | 1997 | 2018 | |||
|
1 | 1.000 | 0.120 | 16 | 89749805 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 9 | 1997 | 2008 | ||||
|
1 | 1.000 | 0.120 | 16 | 89767215 | missense variant | A/C;T | snv | 4.0E-06 | 0.700 | 1.000 | 9 | 1997 | 2008 | ||||
|
1 | 1.000 | 0.120 | 16 | 89816592 | missense variant | G/A;C | snv | 5.0E-03 | 0.700 | 1.000 | 9 | 1997 | 2008 | ||||
|
2 | 0.925 | 0.120 | 16 | 89761950 | missense variant | G/A;T | snv | 2.4E-05; 4.0E-06 | 0.700 | 1.000 | 7 | 2005 | 2016 | ||||
|
2 | 0.925 | 0.120 | 16 | 89805275 | splice region variant | C/A;T | snv | 1.6E-05 | 0.700 | 1.000 | 7 | 1999 | 2018 | ||||
|
2 | 0.925 | 0.120 | 16 | 89761949 | missense variant | C/A;T | snv | 5.2E-05 | 0.700 | 1.000 | 6 | 2000 | 2015 | ||||
|
2 | 0.925 | 0.120 | 16 | 89816551 | stop gained | C/T | snv | 1.2E-04 | 4.2E-05 | 0.700 | 1.000 | 6 | 1997 | 2014 |