| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 |
|
0.080 | 0.875 | 8 | 2011 | 2017 | ||||||||
|
0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 |
|
0.030 | 1.000 | 3 | 2013 | 2018 | ||||||||
|
0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 |
|
0.030 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
0.882 | 0.040 | 1 | 219275036 | downstream gene variant | C/T | snv | 0.19 |
|
0.020 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.827 | 0.120 | 8 | 11826954 | intron variant | A/C;G | snv | 0.56 |
|
0.020 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
0.807 | 0.200 | 11 | 116829453 | upstream gene variant | C/T | snv | 0.51 |
|
0.020 | 1.000 | 2 | 2012 | 2017 | ||||||||
|
0.790 | 0.160 | 22 | 43937814 | intron variant | T/G | snv | 0.20 |
|
0.710 | 1.000 | 2 | 2012 | 2018 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.020 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
0.827 | 0.160 | 19 | 54173307 | upstream gene variant | C/G | snv | 0.61 |
|
0.020 | 0.500 | 2 | 2017 | 2018 | ||||||||
|
0.851 | 0.080 | 22 | 43940218 | intron variant | T/C | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.200 | 4 | 141733279 | 3 prime UTR variant | A/T | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.160 | 4 | 141733394 | 3 prime UTR variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.040 | 1 | 99317401 | intergenic variant | C/A | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.040 | 10 | 100267650 | 5 prime UTR variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.677 | 0.520 | 11 | 71456403 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.701 | 0.360 | 19 | 39241143 | upstream gene variant | A/G | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.752 | 0.240 | 5 | 150843825 | upstream gene variant | T/C | snv | 0.21 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 6 | 160640717 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.040 | 19 | 54178800 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.807 | 0.320 | 2 | 73451171 | frameshift variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.080 | 2 | 71808541 | regulatory region variant | T/C | snv | 0.85 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 11 | 116830958 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.080 | 22 | 43995806 | intron variant | G/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.040 | 4 | 23824109 | intron variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 |