| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.060 | 1.000 | 6 | 2007 | 2015 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.060 | 1.000 | 6 | 2007 | 2015 | |||||||||
|
0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 |
|
0.060 | 0.833 | 6 | 2013 | 2016 | ||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.050 | 1.000 | 5 | 2011 | 2018 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.040 | 1.000 | 4 | 2012 | 2015 | ||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.040 | 0.750 | 4 | 2013 | 2017 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.040 | 0.250 | 4 | 2010 | 2015 | |||||||||
|
0.742 | 0.240 | 11 | 101062681 | missense variant | C/A;G | snv | 0.13; 4.0E-06 |
|
0.030 | 1.000 | 3 | 2001 | 2015 | ||||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 2007 | 2008 | ||||||||
|
0.708 | 0.400 | 14 | 64295199 | intron variant | A/C;T | snv |
|
0.030 | 1.000 | 3 | 2009 | 2018 | |||||||||
|
0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 |
|
0.730 | 1.000 | 3 | 2006 | 2010 | ||||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
0.020 | 1.000 | 2 | 2010 | 2010 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 1.000 | 2 | 2012 | 2015 | |||||||||
|
0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 |
|
0.020 | 0.500 | 2 | 2016 | 2018 | ||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2010 | 2011 | ||||||||
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
0.020 | 1.000 | 2 | 1997 | 1998 | |||||||||
|
0.641 | 0.400 | 5 | 122077513 | missense variant | C/A;T | snv | 4.0E-06; 0.17 |
|
0.020 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
0.695 | 0.320 | 12 | 12718165 | missense variant | T/A;C;G | snv | 1.6E-04; 1.6E-05; 0.26 |
|
0.020 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
0.851 | 0.120 | 2 | 176177905 | non coding transcript exon variant | A/C;T | snv |
|
0.720 | 1.000 | 2 | 2010 | 2017 | |||||||||
|
0.807 | 0.200 | 14 | 64301584 | splice region variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
0.742 | 0.280 | 19 | 40257052 | stop gained | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2007 | 2008 | |||||||||
|
0.776 | 0.160 | 7 | 74059952 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
0.807 | 0.160 | 17 | 43104122 | missense variant | C/A;G | snv | 1.2E-05 |
|
0.020 | 1.000 | 2 | 2003 | 2012 | ||||||||
|
0.827 | 0.160 | 17 | 43115759 | missense variant | G/A | snv |
|
0.020 | 0.500 | 2 | 2007 | 2010 | |||||||||
|
0.790 | 0.200 | 17 | 43115759 | frameshift variant | G/- | delins |
|
0.020 | 0.500 | 2 | 2007 | 2010 |