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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 3 | 75737670 | frameshift variant | TT/- | del | 7.9E-04 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 1 | 117147650 | 3 prime UTR variant | G/A | snv | 0.88 | 0.76 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.807 | 0.120 | 5 | 119393693 | 3 prime UTR variant | A/G | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.732 | 0.320 | 6 | 43523209 | 3 prime UTR variant | T/G | snv | 0.47 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.200 | 17 | 59841547 | 3 prime UTR variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.742 | 0.320 | 13 | 30457747 | 3 prime UTR variant | C/T | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 17 | 36071135 | 3 prime UTR variant | T/C | snv | 0.78 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 14 | 81145770 | 3 prime UTR variant | T/C | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.160 | 19 | 5562104 | 3 prime UTR variant | G/A | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.724 | 0.240 | 8 | 142681514 | 3 prime UTR variant | G/A | snv | 0.46 | 0.45 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.672 | 0.320 | 6 | 52190541 | 3 prime UTR variant | C/T | snv | 6.2E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.790 | 0.240 | 17 | 47311220 | 3 prime UTR variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.080 | 12 | 25205729 | 3 prime UTR variant | TT/-;T | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 12 | 25205729 | 3 prime UTR variant | TT/-;T | delins | 0.48 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 3 | 119525574 | 3 prime UTR variant | A/C | snv | 0.82 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.160 | 12 | 912349 | 3 prime UTR variant | T/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | X | 123912065 | 3 prime UTR variant | C/T | snv | 0.25 | 0.19 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.120 | X | 123911791 | 3 prime UTR variant | C/T | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.240 | 15 | 39581120 | 5 prime UTR variant | T/C | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.701 | 0.440 | 11 | 61792609 | 5 prime UTR variant | G/A | snv | 0.34 | 0.26 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2011 | 2011 |