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 | 0.160 | 2 | 189062865 | splice region variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.200 | 5 | 177608994 | missense variant | C/T | snv | 4.8E-05 | 9.1E-05 | 0.020 | 1.000 | 2 | 2008 | 2010 | |||
|
2 | 0.925 | 0.200 | 7 | 94427227 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 9 | 134820135 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2000 | 2002 | |||||
|
3 | 0.882 | 0.160 | 9 | 134750808 | missense variant | G/A | snv | 3.5E-02 | 3.1E-02 | 0.020 | 1.000 | 2 | 2000 | 2002 | |||
|
2 | 0.925 | 0.200 | 9 | 134835169 | missense variant | A/G | snv | 1.6E-04 | 3.5E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
10 | 0.790 | 0.280 | 17 | 50196337 | missense variant | G/A | snv | 0.030 | 1.000 | 3 | 2007 | 2020 | |||||
|
3 | 0.882 | 0.200 | 17 | 50188541 | missense variant | G/A;C | snv | 6.4E-05 | 0.020 | 1.000 | 2 | 2007 | 2017 | ||||
|
6 | 0.807 | 0.240 | 17 | 50194375 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
2 | 0.925 | 0.240 | 17 | 50193990 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
10 | 0.752 | 0.240 | 17 | 50188908 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.240 | 17 | 50187968 | missense variant | G/A | snv | 2.4E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.200 | 17 | 50189478 | missense variant | G/A | snv | 4.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 0.882 | 0.200 | X | 154368081 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 |