| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.160 | 13 | 110492105 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.480 | 13 | 110179387 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.320 | 1 | 53197092 | missense variant | C/A | snv | 1.7E-04 | 2.2E-04 |
|
0.700 | 0 | ||||||||||
|
0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 |
|
0.100 | 1.000 | 14 | 1999 | 2019 | ||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.080 | 0.875 | 8 | 2002 | 2019 | |||||||
|
0.611 | 0.720 | 22 | 23894205 | intron variant | G/C | snv | 0.26 |
|
0.030 | 1.000 | 3 | 2012 | 2020 | ||||||||
|
0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 |
|
0.020 | 0.500 | 2 | 2013 | 2019 | |||||||
|
0.925 | 0.120 | 6 | 32194075 | intron variant | G/A | snv | 0.21 |
|
0.020 | 1.000 | 2 | 2016 | 2016 | ||||||||
|
0.742 | 0.560 | 16 | 3243447 | missense variant | C/A;G;T | snv | 1.0E-04; 8.0E-06 |
|
0.020 | 1.000 | 2 | 2000 | 2019 | ||||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.020 | 0.500 | 2 | 2019 | 2019 | |||||||
|
0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 |
|
0.020 | 1.000 | 2 | 2005 | 2010 | ||||||||
|
0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.320 | 16 | 3243403 | missense variant | T/A;C | snv | 8.0E-06; 5.2E-03 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 5 | 134194449 | 3 prime UTR variant | A/G | snv | 9.5E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.752 | 0.400 | 6 | 137681500 | intron variant | C/T | snv | 0.24 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.925 | 0.120 | 1 | 183580622 | intron variant | G/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 12 | 47858029 | intron variant | G/A | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.732 | 0.520 | 16 | 31265490 | missense variant | G/A | snv | 9.7E-02 | 0.11 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.790 | 0.240 | 5 | 150879305 | intron variant | A/G | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.763 | 0.320 | 1 | 152032679 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.724 | 0.360 | 17 | 5582047 | missense variant | A/T | snv | 0.37 | 0.33 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.807 | 0.400 | 1 | 173209324 | upstream gene variant | C/T | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.695 | 0.520 | 8 | 11491677 | intron variant | G/A | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2011 | 2011 |