| 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 | 3 | 122261339 | intron variant | G/T | snv | 7.4E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.633 | 0.600 | 3 | 122284910 | missense variant | G/T | snv | 0.13 | 0.11 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 3 | 122286284 | 3 prime UTR variant | C/T | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.120 | 3 | 122282252 | intron variant | T/C | snv | 0.13 | 0.11 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 3 | 122260382 | intron variant | G/A | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 3 | 122282024 | intron variant | C/T | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.851 | 0.200 | 6 | 131952117 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.732 | 0.440 | 11 | 69648142 | splice region variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.653 | 0.480 | 11 | 69648142 | splice region variant | G/A | snv | 0.45 | 0.39 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.695 | 0.320 | 11 | 35154612 | intron variant | T/C | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.120 | 16 | 68822063 | missense variant | G/A;T | snv | 3.3E-03; 2.4E-05 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.732 | 0.160 | 16 | 68787043 | intron variant | G/A | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.080 | 17 | 47981705 | missense variant | T/C | snv | 0.25 | 0.19 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.080 | 9 | 21974571 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 9 | 21971055 | frameshift variant | C/- | delins |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.653 | 0.560 | 1 | 203186754 | upstream gene variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.080 | 1 | 11804529 | 5 prime UTR variant | T/C | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 3 | 190312891 | synonymous variant | A/C;G;T | snv | 8.0E-06; 0.83; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 17 | 7260404 | synonymous variant | A/C;G | snv | 4.1E-02; 8.0E-06; 4.0E-06 | 2.4E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 17 | 7260420 | missense variant | A/G | snv | 0.65 | 0.70 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 6 | 33189169 | missense variant | G/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.695 | 0.280 | 11 | 111300984 | intron variant | C/A | snv | 0.71 |
|
0.020 | 1.000 | 2 | 2008 | 2013 | ||||||||
|
0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.776 | 0.480 | 2 | 203866796 | upstream gene variant | C/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |