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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.060 | 1.000 | 6 | 1999 | 2014 | |||
|
3 | 0.925 | 0.040 | 1 | 16024780 | missense variant | A/C;G | snv | 0.55 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
33 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
4 | 0.851 | 0.080 | 1 | 237648523 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.080 | 1 | 26696971 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.040 | 1 | 201376359 | intron variant | G/A | snv | 0.27 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.080 | 1 | 162066689 | upstream gene variant | G/A | snv | 8.6E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 111503935 | intron variant | C/T | snv | 0.72 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.040 | 1 | 16016759 | intron variant | T/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.925 | 0.040 | 1 | 11844019 | 3 prime UTR variant | T/C | snv | 0.32 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
6 | 0.827 | 0.040 | 1 | 150150942 | missense variant | C/G;T | snv | 1.1E-02; 1.6E-05 | 4.4E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
9 | 0.790 | 0.240 | 1 | 237614784 | missense variant | G/A;T | snv | 4.0E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
35 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
13 | 0.776 | 0.160 | 1 | 11845917 | 3 prime UTR variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
5 | 0.851 | 0.120 | 1 | 109625326 | missense variant | C/T | snv | 4.1E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
5 | 0.851 | 0.240 | 1 | 156115102 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
6 | 0.882 | 0.040 | 1 | 156134464 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
6 | 0.827 | 0.160 | 1 | 156134496 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
4 | 0.851 | 0.040 | 1 | 156130687 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 1.000 | 0.040 | 1 | 115707991 | intron variant | C/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.040 | 1 | 114680329 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 1 | 115700759 | 3 prime UTR variant | G/A | snv | 0.64 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.925 | 0.040 | 1 | 156136080 | missense variant | G/C | snv | 0.700 | 0 |