| 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 |
|
0.100 | 0.900 | 10 | 2002 | 2016 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.100 | 0.900 | 10 | 2002 | 2016 | |||||||||
|
0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 |
|
0.060 | 1.000 | 6 | 2015 | 2017 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.060 | 0.833 | 6 | 2012 | 2018 | |||||||||
|
0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 |
|
0.050 | 1.000 | 5 | 2012 | 2019 | ||||||||
|
0.630 | 0.640 | 15 | 74719300 | downstream gene variant | A/G;T | snv | 0.18 |
|
0.050 | 1.000 | 5 | 2011 | 2017 | ||||||||
|
0.827 | 0.080 | 4 | 55885574 | intron variant | C/T | snv | 0.21 |
|
0.730 | 1.000 | 4 | 2013 | 2017 | ||||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.040 | 1.000 | 4 | 2017 | 2018 | ||||||||
|
0.807 | 0.280 | 6 | 33104395 | intron variant | T/G | snv | 3.1E-02 |
|
0.730 | 1.000 | 4 | 2013 | 2016 | ||||||||
|
0.677 | 0.400 | 5 | 168768351 | intron variant | G/A | snv | 0.25 |
|
0.030 | 1.000 | 3 | 2010 | 2017 | ||||||||
|
0.827 | 0.120 | 6 | 31422633 | intron variant | T/C;G | snv |
|
0.720 | 1.000 | 3 | 2013 | 2016 | |||||||||
|
0.882 | 0.080 | 6 | 33121846 | intron variant | C/A;G | snv |
|
0.720 | 1.000 | 3 | 2013 | 2018 | |||||||||
|
0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 |
|
0.030 | 1.000 | 3 | 2012 | 2018 | ||||||||
|
0.672 | 0.320 | 6 | 52190541 | 3 prime UTR variant | C/T | snv | 6.2E-02 |
|
0.030 | 1.000 | 3 | 2015 | 2017 | ||||||||
|
0.649 | 0.600 | 3 | 159995680 | 3 prime UTR variant | G/A | snv | 0.16 |
|
0.030 | 1.000 | 3 | 2009 | 2017 | ||||||||
|
0.752 | 0.240 | 17 | 39895095 | regulatory region variant | A/G | snv | 0.50 |
|
0.720 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 |
|
0.030 | 1.000 | 3 | 2016 | 2018 | ||||||||
|
0.882 | 0.080 | 6 | 32633026 | intron variant | T/C | snv | 0.49 |
|
0.720 | 1.000 | 3 | 2013 | 2014 | ||||||||
|
0.724 | 0.440 | 6 | 33087084 | 3 prime UTR variant | A/G | snv | 0.25 |
|
0.720 | 1.000 | 3 | 2013 | 2018 | ||||||||
|
0.851 | 0.080 | 6 | 33236497 | upstream gene variant | G/A | snv | 0.10 |
|
0.720 | 1.000 | 3 | 2013 | 2016 | ||||||||
|
0.882 | 0.080 | 17 | 61679808 | 3 prime UTR variant | T/A;C | snv |
|
0.020 | 0.500 | 2 | 2013 | 2016 | |||||||||
|
0.658 | 0.560 | 9 | 117715853 | 3 prime UTR variant | G/C | snv | 0.11 |
|
0.020 | 0.500 | 2 | 2017 | 2019 | ||||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.637 | 0.440 | 10 | 88990206 | non coding transcript exon variant | A/G | snv | 0.54 |
|
0.020 | < 0.001 | 2 | 2014 | 2017 | ||||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2015 | 2016 |