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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 2 | 25161480 | frameshift variant | -/CC | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 2 | 25161455 | missense variant | A/G | snv | 1.8E-04 | 1.6E-04 |
|
0.020 | 1.000 | 2 | 2008 | 2015 | |||||||
|
0.925 | 0.080 | 2 | 25161455 | missense variant | A/G | snv | 1.8E-04 | 1.6E-04 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.160 | 2 | 25161686 | stop gained | C/A;G;T | snv | 1.1E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.160 | 2 | 25161686 | stop gained | C/A;G;T | snv | 1.1E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 2 | 25161572 | stop gained | C/A;G;T | snv | 6.2E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 2 | 25161451 | missense variant | C/A;T | snv | 3.0E-05; 3.0E-05 |
|
0.020 | 1.000 | 2 | 1998 | 2006 | ||||||||
|
1.000 | 0.080 | 2 | 25164690 | missense variant | C/A;T | snv | 8.0E-06; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2008 | 2018 | ||||||||
|
1.000 | 0.080 | 2 | 25161526 | missense variant | C/A;T | snv | 5.1E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.200 | 2 | 25161505 | missense variant | C/A;T | snv | 9.2E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.200 | 2 | 25161505 | missense variant | C/A;T | snv | 9.2E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 2 | 25161441 | missense variant | C/G | snv | 4.2E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.040 | 2 | 25161623 | missense variant | C/G;T | snv | 6.7E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.925 | 0.040 | 2 | 25161623 | missense variant | C/G;T | snv | 6.7E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.925 | 0.160 | 2 | 25161716 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.160 | 2 | 25161716 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 2 | 25161178 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 2 | 25161334 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.080 | 2 | 25161334 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.080 | 2 | 25161334 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.040 | 2 | 25170385 | upstream gene variant | C/T | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 2 | 25161569 | missense variant | C/T | snv | 2.5E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
0.925 | 0.120 | 2 | 25161569 | missense variant | C/T | snv | 2.5E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
1.000 | 0.160 | 2 | 25161311 | missense variant | C/T | snv | 4.3E-06; 3.0E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
1.000 | 0.080 | 2 | 25161588 | inframe insertion | CGCTGCTGC/-;CGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC;CGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC | delins | 3.9E-05 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 |