| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 1 | 145995155 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.120 | 14 | 104775122 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.080 | 7 | 116559145 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 7 | 55174740 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.827 | 0.240 | 12 | 112450362 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
2 | 46576601 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||||
|
16 | 55485367 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
0.827 | 0.200 | 14 | 102251978 | missense variant | A/G | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.120 | 16 | 78386878 | missense variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.080 | 4 | 94654530 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.200 | 1 | 109740350 | 5 prime UTR variant | G/T | snv | 0.64 | 0.66 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.040 | 10 | 68882104 | missense variant | T/C | snv | 0.62 | 0.57 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.827 | 0.040 | 1 | 67687668 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
22 | 39955861 | missense variant | A/G | snv | 4.0E-06 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
6 | 30627473 | missense variant | C/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.925 | 0.080 | 17 | 74768481 | missense variant | A/T | snv | 1.0E-03 | 1.2E-03 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 10 | 31520347 | missense variant | C/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
7 | 101135780 | frameshift variant | A/- | del |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||||
|
0.925 | 0.080 | 11 | 44618361 | missense variant | A/G | snv | 4.1E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
7 | 81707297 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.807 | 0.240 | 15 | 39581120 | 5 prime UTR variant | T/C | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |