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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 2 | 26463969 | missense variant | C/G;T | snv | 5.1E-04 | 0.020 | 1.000 | 2 | 2010 | 2018 | ||||
|
4 | 0.882 | 0.120 | 2 | 26458218 | missense variant | C/T | snv | 4.3E-05 | 1.4E-05 | 0.020 | 1.000 | 2 | 2012 | 2018 | |||
|
3 | 0.882 | 0.120 | 2 | 26460203 | missense variant | C/G;T | snv | 4.4E-06; 6.1E-05 | 0.020 | 1.000 | 2 | 2012 | 2018 | ||||
|
4 | 0.882 | 0.120 | 2 | 178456149 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.120 | 2 | 178453570 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
12 | 0.732 | 0.160 | 1 | 161306722 | missense variant | T/C;G | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.120 | 10 | 53822982 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | 2 | 26464073 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.160 | X | 130137123 | missense variant | G/A | snv | 1.9E-04 | 3.8E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.120 | 12 | 82896304 | missense variant | G/A | snv | 1.0E-02 | 6.2E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
8 | 0.790 | 0.200 | 13 | 20189481 | missense variant | A/C;G | snv | 8.7E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.120 | 2 | 26483581 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.120 | 10 | 53822631 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 2 | 26474609 | stop gained | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 2 | 26477730 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 2 | 26480887 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.160 | X | 130133409 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |