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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.050 | 0.600 | 5 | 2013 | 2017 | |||||||
|
0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 |
|
0.050 | 0.600 | 5 | 2013 | 2017 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 |
|
0.100 | 0.931 | 29 | 1998 | 2018 | ||||||||
|
0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 |
|
0.100 | 0.980 | 49 | 1986 | 2019 | ||||||||
|
0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 |
|
0.020 | 1.000 | 2 | 2012 | 2016 | ||||||||
|
0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 |
|
0.040 | 1.000 | 4 | 2000 | 2005 | ||||||||
|
0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 |
|
0.100 | 1.000 | 12 | 2001 | 2019 | |||||||
|
0.672 | 0.360 | 6 | 149400554 | missense variant | G/A | snv | 0.55 | 0.57 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.683 | 0.440 | 12 | 6333477 | missense variant | C/G;T | snv | 4.0E-06; 1.3E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.716 | 0.400 | 16 | 3243405 | missense variant | C/T | snv | 1.4E-04 | 6.3E-05 |
|
0.020 | 1.000 | 2 | 2001 | 2017 | |||||||
|
0.724 | 0.200 | 5 | 136046407 | missense variant | G/A;T | snv | 4.0E-05 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.724 | 0.280 | 21 | 26021917 | missense variant | T/G | snv | 8.2E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.732 | 0.440 | 16 | 3243310 | missense variant | A/G;T | snv | 2.2E-03; 4.0E-06 |
|
0.030 | 1.000 | 3 | 2004 | 2010 | ||||||||
|
0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.742 | 0.360 | 18 | 31598580 | missense variant | G/T | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2017 | 2018 | |||||||
|
0.742 | 0.560 | 16 | 3243447 | missense variant | C/A;G;T | snv | 1.0E-04; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.752 | 0.280 | 18 | 31598632 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.763 | 0.280 | 11 | 18269774 | synonymous variant | T/C | snv | 0.42 | 0.36 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.763 | 0.160 | 21 | 25897627 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.763 | 0.160 | 21 | 25897626 | missense variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.776 | 0.200 | 18 | 31592975 | missense variant | T/C;G | snv |
|
0.020 | 0.500 | 2 | 2007 | 2014 | |||||||||
|
0.776 | 0.160 | 14 | 73192832 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.776 | 0.200 | 21 | 25891855 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 |