| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.120 | 11 | 112087953 | missense variant | A/G | snv | 6.6E-03 | 6.7E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv |
|
0.030 | 1.000 | 3 | 2014 | 2018 | |||||||||
|
0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.827 | 0.200 | 5 | 112827157 | stop gained | T/C;G | snv | 0.58 | 0.47 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.807 | 0.120 | 5 | 112828889 | stop gained | C/T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.120 | 5 | 112828919 | stop gained | C/T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.716 | 0.280 | 5 | 112837567 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
0.020 | 1.000 | 2 | 1998 | 2007 | |||||||||
|
0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 |
|
0.020 | 1.000 | 2 | 1998 | 2007 | |||||||
|
0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 |
|
0.020 | 1.000 | 2 | 2003 | 2009 | |||||||
|
0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.160 | 5 | 113071088 | splice donor variant | -/CGCACTGTCTTCCT;CGCGCTGTCTTCCT;CGTGCTGTCTTCCT | delins |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 1 | 113114471 | stop gained | C/T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.080 | 2 | 113220126 | missense variant | G/A;C | snv | 2.0E-03; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
0.020 | 1.000 | 2 | 2015 | 2015 | ||||||||
|
3 | 11558705 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
0.807 | 0.240 | 5 | 115616325 | missense variant | C/T | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.827 | 0.160 | 7 | 116771869 | missense variant | C/T | snv | 2.9E-03 | 3.2E-03 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.050 | 0.800 | 5 | 2006 | 2013 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.875 | 16 | 2001 | 2014 | |||||||
|
0.641 | 0.400 | 5 | 122077513 | missense variant | C/A;T | snv | 4.0E-06; 0.17 |
|
0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 |