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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.790 | 0.160 | 4 | 67754019 | missense variant | T/C | snv | 2.8E-03 | 2.3E-03 | 0.020 | 1.000 | 2 | 2000 | 2009 | |||
|
4 | 0.882 | 0.160 | 4 | 67754068 | missense variant | C/T | snv | 3.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.882 | 0.160 | X | 30304676 | missense variant | A/C | snv | 0.010 | < 0.001 | 1 | 2001 | 2001 | |||||
|
3 | 0.882 | 0.160 | 10 | 69103945 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.160 | X | 67545280 | missense variant | C/G | snv | 3.3E-05 | 2.5E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.160 | 4 | 67740670 | missense variant | A/C | snv | 8.0E-06 | 5.6E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
4 | 0.851 | 0.160 | X | 67711453 | missense variant | C/A | snv | 1.1E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.851 | 0.200 | 19 | 49016648 | missense variant | A/G | snv | 6.5E-02 | 7.6E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
18 | 0.708 | 0.520 | 16 | 89935679 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.160 | X | 30304673 | missense variant | T/A;C | snv | 5.4E-06 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
4 | 0.851 | 0.200 | 19 | 49016626 | missense variant | A/G | snv | 4.9E-02 | 7.5E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 0.827 | 0.160 | 20 | 5314116 | missense variant | C/A;T | snv | 3.3E-04; 7.1E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.160 | 4 | 67753825 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
2 | 0.925 | 0.160 | 4 | 67754013 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.882 | 0.200 | 4 | 147539919 | missense variant | G/A;C | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.160 | 20 | 5302393 | missense variant | G/A | snv | 3.9E-03 | 1.4E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 |