| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.080 | 1 | 240531955 | intron variant | C/T | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.160 | 1 | 54527266 | downstream gene variant | T/C | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.200 | 1 | 109740350 | 5 prime UTR variant | G/T | snv | 0.64 | 0.66 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.120 | 1 | 207569911 | missense variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 1 | 157524520 | frameshift variant | GGGAG/- | del |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.160 | 1 | 226883774 | missense variant | C/T | snv | 3.6E-03 | 3.4E-03 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 1 | 109369429 | intron variant | A/G | snv | 5.8E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 1 | 109398511 | upstream gene variant | C/T | snv | 0.64 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 1 | 226895498 | missense variant | C/G;T | snv | 4.0E-06; 2.8E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.120 | 1 | 21290752 | intron variant | G/T | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 1 | 179300309 | intron variant | T/C | snv | 0.77 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.807 | 0.120 | 1 | 226888977 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.827 | 0.080 | 1 | 226885546 | missense variant | C/G;T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 1 | 207552816 | missense variant | G/T | snv | 1.4E-03 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 1 | 150269789 | intron variant | G/C | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 1 | 3690286 | intron variant | G/A;T | snv |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.080 | 1 | 207609571 | missense variant | A/T | snv | 0.99 | 0.99 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 1 | 207629207 | intron variant | A/C | snv | 0.87 |
|
0.710 | 1.000 | 1 | 2011 | 2012 | ||||||||
|
0.653 | 0.560 | 1 | 203186754 | upstream gene variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.776 | 0.240 | 1 | 53247055 | missense variant | C/T | snv | 0.29 | 0.28 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 1 | 226888902 | missense variant | G/A;T | snv | 4.0E-06; 2.4E-04 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.080 | 1 | 226883748 | missense variant | G/A | snv | 8.6E-03 | 1.4E-02 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.080 | 1 | 54867852 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 |