| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 1.000 | 19 | 2011 | 2020 | |||||||||
|
0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv |
|
0.900 | 0.952 | 16 | 2009 | 2020 | |||||||||
|
0.776 | 0.240 | 11 | 118606652 | 5 prime UTR variant | A/G;T | snv |
|
0.900 | 0.941 | 15 | 2009 | 2020 | |||||||||
|
0.683 | 0.440 | 9 | 22068653 | intron variant | G/A | snv | 0.64 |
|
0.900 | 0.875 | 14 | 2009 | 2020 | ||||||||
|
0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 |
|
0.900 | 0.889 | 13 | 2009 | 2020 | ||||||||
|
0.763 | 0.200 | 8 | 129673211 | intron variant | T/G | snv | 0.17 |
|
0.900 | 1.000 | 11 | 2009 | 2020 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.070 | 0.571 | 7 | 2008 | 2018 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.070 | 0.571 | 7 | 2008 | 2018 | |||||||||
|
0.882 | 0.040 | 7 | 54911231 | intergenic variant | C/T | snv | 0.27 |
|
0.860 | 0.833 | 6 | 2011 | 2017 | ||||||||
|
0.732 | 0.080 | 8 | 129633446 | intron variant | A/G | snv | 3.9E-02 |
|
0.760 | 1.000 | 6 | 2013 | 2019 | ||||||||
|
0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv |
|
0.050 | 0.800 | 5 | 2016 | 2020 | |||||||||
|
0.882 | 0.040 | 7 | 55091656 | intron variant | A/G;T | snv | 0.20 |
|
0.850 | 1.000 | 5 | 2011 | 2018 | ||||||||
|
0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv |
|
0.840 | 1.000 | 4 | 2009 | 2017 | |||||||||
|
0.925 | 0.120 | 7 | 55147325 | intron variant | A/C | snv | 0.51 |
|
0.040 | 0.750 | 4 | 2012 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 55881198 | intron variant | C/T | snv | 0.36 |
|
0.030 | 1.000 | 3 | 2015 | 2017 | ||||||||
|
0.882 | 0.040 | 2 | 55865477 | downstream gene variant | C/A;G;T | snv |
|
0.030 | 1.000 | 3 | 2015 | 2017 | |||||||||
|
0.925 | 0.120 | 7 | 55162412 | intron variant | C/T | snv | 0.21 |
|
0.030 | 1.000 | 3 | 2012 | 2015 | ||||||||
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
0.030 | 1.000 | 3 | 2011 | 2018 | ||||||||
|
0.732 | 0.320 | 16 | 13949318 | 3 prime UTR variant | C/A;G | snv |
|
0.030 | 1.000 | 3 | 2013 | 2014 | |||||||||
|
0.925 | 0.120 | 2 | 55869757 | intron variant | A/G | snv | 0.20 |
|
0.030 | 1.000 | 3 | 2015 | 2016 | ||||||||
|
0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 |
|
0.030 | 1.000 | 3 | 2012 | 2014 | ||||||||
|
1.000 | 0.040 | 13 | 108207498 | 3 prime UTR variant | C/T | snv | 0.12 |
|
0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.925 | 0.080 | 18 | 672792 | 3 prime UTR variant | C/T | snv | 0.40 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.752 | 0.160 | 10 | 112709306 | intron variant | A/T | snv | 0.32 |
|
0.020 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv |
|
0.720 | 1.000 | 2 | 2011 | 2012 |