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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.100 | 1.000 | 10 | 2006 | 2018 | |||||||
|
0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 |
|
0.070 | 0.857 | 7 | 2013 | 2020 | ||||||||
|
0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 |
|
0.050 | 1.000 | 5 | 2010 | 2016 | ||||||||
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.040 | 1.000 | 4 | 2013 | 2019 | |||||||
|
0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 |
|
0.040 | 1.000 | 4 | 2013 | 2019 | ||||||||
|
0.724 | 0.240 | 17 | 45991484 | missense variant | G/A;T | snv | 1.5E-03; 1.2E-05 |
|
0.030 | 0.667 | 3 | 2012 | 2019 | ||||||||
|
0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 |
|
0.030 | 1.000 | 3 | 2006 | 2016 | ||||||||
|
0.807 | 0.080 | 3 | 129528801 | missense variant | C/A | snv |
|
0.020 | 1.000 | 2 | 2002 | 2014 | |||||||||
|
0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 2002 | 2003 | |||||||||
|
0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv |
|
0.020 | 1.000 | 2 | 2002 | 2003 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2004 | 2016 | |||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.020 | 1.000 | 2 | 2006 | 2011 | |||||||
|
0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 |
|
0.020 | 1.000 | 2 | 2006 | 2014 | |||||||
|
0.925 | 0.120 | 20 | 63930873 | missense variant | T/A;G | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2012 | 2015 | ||||||||
|
0.776 | 0.120 | 17 | 46010388 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2019 | |||||||||
|
0.742 | 0.120 | 4 | 89828170 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 5 | 70946157 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.763 | 0.280 | 11 | 111908934 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.882 | 0.160 | 14 | 20472447 | missense variant | G/A | snv | 0.19 | 0.21 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.827 | 0.200 | 17 | 45996523 | synonymous variant | A/G | snv | 0.14 | 0.15 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 20 | 4699785 | missense variant | G/A | snv | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 14 | 89993420 | missense variant | A/G | snv | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.763 | 0.200 | 9 | 35065363 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.790 | 0.160 | 9 | 121310819 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 |