| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.400 | 3 | 48466996 | missense variant | G/A;C | snv | 2.1E-04; 2.7E-04 |
|
0.730 | 1.000 | 3 | 2007 | 2013 | ||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.030 | 1.000 | 3 | 2008 | 2017 | |||||||||
|
0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2014 | 2015 | ||||||||
|
0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv |
|
0.020 | 1.000 | 2 | 2012 | 2017 | |||||||||
|
0.827 | 0.240 | 1 | 183563445 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 3.4E-02 |
|
0.720 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.695 | 0.440 | 12 | 68161231 | intron variant | G/A;C | snv |
|
0.020 | 1.000 | 2 | 2010 | 2016 | |||||||||
|
1.000 | 0.080 | X | 154031941 | intron variant | A/C;G | snv |
|
0.020 | 1.000 | 2 | 2013 | 2015 | |||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.020 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.851 | 0.200 | 1 | 206841127 | intron variant | A/C;T | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.763 | 0.400 | 2 | 113132727 | missense variant | T/A;C | snv | 4.0E-06; 0.31 |
|
0.020 | 0.500 | 2 | 2006 | 2013 | ||||||||
|
0.882 | 0.160 | 12 | 6333790 | missense variant | G/A;T | snv | 1.0E-04 |
|
0.020 | 1.000 | 2 | 2004 | 2004 | ||||||||
|
0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 |
|
0.020 | 1.000 | 2 | 2012 | 2015 | ||||||||
|
0.851 | 0.280 | 11 | 128441164 | intergenic variant | G/A;T | snv |
|
0.820 | 1.000 | 2 | 2009 | 2015 | |||||||||
|
0.882 | 0.200 | 2 | 30222160 | intergenic variant | T/C;G | snv |
|
0.720 | 1.000 | 2 | 2013 | 2017 | |||||||||
|
0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 |
|
0.020 | 0.500 | 2 | 2006 | 2013 | ||||||||
|
0.627 | 0.600 | 21 | 45531904 | missense variant | C/A;T | snv | 9.7E-06; 1.4E-05 |
|
0.020 | 1.000 | 2 | 2014 | 2015 | ||||||||
|
0.851 | 0.160 | 1 | 161548543 | missense variant | A/C;T | snv | 4.3E-02; 5.5E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 19 | 54667913 | missense variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.160 | 1 | 207472977 | synonymous variant | G/A;T | snv | 0.34; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.851 | 0.200 | 21 | 46602317 | synonymous variant | C/A;G;T | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.925 | 0.240 | 5 | 157109557 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.752 | 0.360 | 6 | 29830972 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 11 | 69048055 | upstream gene variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 10 | 62852354 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 |