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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.280 | 13 | 20189364 | missense variant | T/C | snv |
|
0.800 | 1.000 | 0 | 1998 | 2008 | |||||||||
|
0.776 | 0.200 | 13 | 20189358 | missense variant | C/T | snv | 7.0E-06 |
|
0.800 | 1.000 | 0 | 1998 | 2008 | ||||||||
|
0.790 | 0.280 | 13 | 20189434 | missense variant | C/A;T | snv |
|
0.800 | 1.000 | 0 | 2002 | 2002 | |||||||||
|
0.925 | 0.200 | 13 | 20189047 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 0 | 1998 | 2009 | ||||||||
|
0.708 | 0.440 | 13 | 20189473 | missense variant | C/A;T | snv | 7.7E-03 |
|
0.800 | 0.900 | 0 | 2004 | 2017 | ||||||||
|
0.752 | 0.280 | 13 | 20189031 | missense variant | C/G;T | snv | 6.0E-05 |
|
0.800 | 1.000 | 0 | 1998 | 2009 | ||||||||
|
0.790 | 0.240 | 13 | 20189448 | missense variant | C/T | snv | 8.0E-06 |
|
0.780 | 1.000 | 0 | 2006 | 2019 | ||||||||
|
0.790 | 0.200 | 13 | 20189481 | missense variant | A/C;G | snv | 8.7E-03 |
|
0.740 | 0.833 | 2 | 2001 | 2012 | ||||||||
|
0.752 | 0.280 | 13 | 20189031 | missense variant | C/G;T | snv | 6.0E-05 |
|
0.730 | 0.667 | 0 | 2010 | 2017 | ||||||||
|
0.882 | 0.200 | 13 | 20189359 | missense variant | G/A;C | snv |
|
0.720 | 1.000 | 0 | 2000 | 2001 | |||||||||
|
0.695 | 0.440 | 13 | 20189313 | missense variant | A/G | snv | 6.4E-04 | 6.4E-04 |
|
0.720 | 1.000 | 0 | 2005 | 2007 | |||||||
|
0.763 | 0.280 | 13 | 20189155 | missense variant | G/A | snv | 1.2E-04 | 2.0E-04 |
|
0.720 | 1.000 | 0 | 2005 | 2019 | |||||||
|
0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 |
|
0.710 | 1.000 | 0 | 2019 | 2019 | |||||||
|
0.851 | 0.240 | 13 | 20189386 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 0 | 1999 | 1999 | ||||||||
|
0.925 | 0.120 | 13 | 20189450 | stop gained | C/G;T | snv | 2.8E-05 |
|
0.710 | 1.000 | 0 | 2001 | 2001 | ||||||||
|
1.000 | 0.120 | 13 | 20189212 | stop gained | G/A | snv | 8.4E-05 |
|
0.710 | 1.000 | 0 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 13 | 20189526 | missense variant | C/A;G | snv | 2.8E-05; 1.2E-05 |
|
0.710 | 1.000 | 0 | 2005 | 2005 | ||||||||
|
0.732 | 0.280 | 13 | 20189547 | frameshift variant | C/-;CC | delins | 6.4E-03 |
|
0.700 | 1.000 | 35 | 1997 | 2014 | ||||||||
|
0.790 | 0.200 | 13 | 20189481 | missense variant | A/C;G | snv | 8.7E-03 |
|
0.700 | 1.000 | 27 | 1997 | 2016 | ||||||||
|
0.763 | 0.400 | 13 | 20189488 | missense variant | G/A;T | snv | 3.2E-05; 8.0E-06 |
|
0.700 | 1.000 | 24 | 2000 | 2015 | ||||||||
|
0.776 | 0.280 | 13 | 20189443 | stop gained | C/A;T | snv | 1.3E-04; 4.0E-06 |
|
0.700 | 1.000 | 23 | 1997 | 2012 | ||||||||
|
1.000 | 0.120 | 13 | 20189284 | missense variant | G/A | snv | 1.2E-05 | 2.8E-05 |
|
0.700 | 1.000 | 17 | 1999 | 2016 | |||||||
|
0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 |
|
0.700 | 1.000 | 16 | 1997 | 2015 | |||||||
|
0.925 | 0.120 | 13 | 20189547 | missense variant | C/A;T | snv | 9.2E-05; 7.2E-05 |
|
0.700 | 1.000 | 16 | 2000 | 2015 | ||||||||
|
0.925 | 0.120 | 13 | 20189217 | missense variant | T/A;G | snv | 6.0E-05 |
|
0.700 | 1.000 | 15 | 1999 | 2016 |