| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.240 | 9 | 136517908 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.763 | 0.200 | 10 | 58390856 | missense variant | C/T | snv | 1.6E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.070 | 0.857 | 7 | 2000 | 2019 | |||||||
|
0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 |
|
0.030 | 1.000 | 3 | 2002 | 2009 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.030 | 0.667 | 3 | 2001 | 2019 | |||||||||
|
0.716 | 0.440 | 11 | 46719773 | missense variant | G/A;T | snv | 4.5E-06; 4.5E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.763 | 0.320 | 3 | 93905799 | missense variant | T/C | snv | 2.8E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 15 | 98891384 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 10 | 68882104 | missense variant | T/C | snv | 0.62 | 0.57 |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | |||||||
|
0.695 | 0.400 | 11 | 46739505 | 3 prime UTR variant | G/A | snv | 9.6E-03 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.200 | 4 | 154562556 | upstream gene variant | G/A | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
15 | 98908819 | missense variant | G/A;T | snv | 2.0E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 1 | 53266643 | synonymous variant | G/T | snv | 0.38 | 0.36 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.752 | 0.280 | 4 | 24799693 | missense variant | G/A;T | snv | 0.55 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.807 | 0.360 | 2 | 218661219 | missense variant | A/G | snv | 4.7E-04 | 4.1E-04 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.240 | 11 | 2884119 | missense variant | C/A;G | snv |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 13 | 113118845 | missense variant | G/A;C;T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.200 | 5 | 112828920 | missense variant | G/A | snv | 3.2E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 1998 | 1998 |