| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.040 | 14 | 20442249 | downstream gene variant | C/T | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.120 | 6 | 12288986 | upstream gene variant | T/G | snv | 0.24 |
|
0.020 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
0.790 | 0.160 | 10 | 111076745 | upstream gene variant | G/C | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.614 | 0.680 | 2 | 203867624 | upstream gene variant | C/T | snv | 6.7E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.040 | 12 | 68828867 | stop lost | T/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.040 | 5 | 65151950 | splice region variant | C/G;T | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 0.500 | 2 | 2007 | 2009 | |||||||||
|
0.882 | 0.040 | 12 | 68841626 | 3 prime UTR variant | G/A | snv | 0.35 |
|
0.020 | 0.500 | 2 | 2014 | 2016 | ||||||||
|
0.882 | 0.040 | 19 | 47004177 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.827 | 0.120 | 16 | 82148499 | 3 prime UTR variant | T/C | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.040 | 17 | 50184491 | 3 prime UTR variant | A/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.708 | 0.280 | 6 | 133893387 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.827 | 0.080 | 20 | 6779554 | 3 prime UTR variant | T/C | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.683 | 0.480 | 9 | 22003224 | 3 prime UTR variant | C/T | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.160 | 2 | 102343821 | 3 prime UTR variant | C/G | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.160 | 10 | 111079821 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.649 | 0.600 | 3 | 159995680 | 3 prime UTR variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.732 | 0.440 | 12 | 102399855 | 3 prime UTR variant | A/G | snv | 2.1E-02 |
|
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 | 2018 | 2018 | ||||||||
|
0.807 | 0.200 | 17 | 7676483 | 5 prime UTR variant | G/A;C;T | snv | 1.2E-05; 0.67; 2.8E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |