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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 1 | 45332218 | missense variant | C/T | snv | 4.8E-05 | 4.2E-05 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.080 | 1 | 45332218 | missense variant | C/T | snv | 4.8E-05 | 4.2E-05 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||
|
0.752 | 0.280 | 1 | 45329400 | missense variant | C/T | snv | 2.0E-05 | 2.8E-05 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 1 | 45331496 | missense variant | T/C;G | snv | 1.2E-05 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.080 | 1 | 45331496 | missense variant | T/C;G | snv | 1.2E-05 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | ||||||||
|
0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 |
|
0.020 | 0.500 | 2 | 2009 | 2019 | |||||||
|
0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 |
|
0.020 | 0.500 | 2 | 2009 | 2019 | |||||||
|
0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 |
|
0.020 | 0.500 | 2 | 2004 | 2006 | |||||||
|
0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 |
|
0.020 | 0.500 | 2 | 2004 | 2006 | |||||||
|
0.752 | 0.280 | 1 | 45329400 | missense variant | C/T | snv | 2.0E-05 | 2.8E-05 |
|
0.020 | 0.500 | 2 | 2008 | 2013 | |||||||
|
0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 |
|
0.030 | 0.667 | 3 | 2009 | 2019 | |||||||
|
0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 |
|
0.030 | 0.667 | 3 | 2009 | 2019 | |||||||
|
0.672 | 0.360 | 1 | 45331833 | missense variant | C/A;G | snv | 0.29 | 0.27 |
|
0.060 | 0.833 | 6 | 2008 | 2018 | |||||||
|
0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 |
|
0.800 | 0.941 | 13 | 2002 | 2019 | |||||||
|
0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 |
|
0.800 | 1.000 | 13 | 2002 | 2019 | |||||||
|
0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 |
|
0.800 | 1.000 | 10 | 2005 | 2019 | |||||||
|
0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 |
|
0.770 | 1.000 | 7 | 2005 | 2017 | |||||||
|
0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 |
|
0.050 | 1.000 | 5 | 2002 | 2011 | |||||||
|
0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 |
|
0.040 | 1.000 | 4 | 2012 | 2019 | |||||||
|
0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 |
|
0.030 | 1.000 | 3 | 2012 | 2019 | |||||||
|
0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 |
|
0.030 | 1.000 | 3 | 2010 | 2015 | |||||||
|
0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 |
|
0.030 | 1.000 | 3 | 2004 | 2011 | |||||||
|
0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 |
|
0.030 | 1.000 | 3 | 2003 | 2008 | |||||||
|
0.851 | 0.120 | 1 | 45332804 | frameshift variant | GCCAGCCCAG/- | delins | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
0.925 | 0.120 | 1 | 45340760 | 5 prime UTR variant | C/T | snv | 0.27 |
|
0.020 | 1.000 | 2 | 2015 | 2017 |