| 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 | 2 | 55865477 | downstream gene variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.040 | 16 | 24576962 | downstream gene variant | A/C | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.649 | 0.320 | 5 | 1295234 | upstream gene variant | A/G | snv | 0.25 |
|
0.040 | 1.000 | 4 | 2015 | 2017 | ||||||||
|
0.827 | 0.040 | 6 | 43768759 | upstream gene variant | T/C | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.040 | 6 | 41163980 | upstream gene variant | A/G | snv | 2.2E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.763 | 0.240 | 5 | 132672952 | upstream gene variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.732 | 0.160 | 21 | 46606442 | upstream gene variant | G/A | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.790 | 0.280 | 13 | 32332796 | frameshift variant | -/CT | ins |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.040 | 2 | 15940679 | frameshift variant | C/-;CC | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.040 | 17 | 7673750 | frameshift variant | -/TTTCCGCCGG | delins | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 |
|
0.020 | 1.000 | 2 | 2011 | 2015 | ||||||||
|
0.925 | 0.040 | 17 | 44907319 | 3 prime UTR variant | G/C;T | snv | 0.27; 1.2E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.080 | 11 | 118657714 | 3 prime UTR variant | C/T | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.040 | 13 | 28003551 | 3 prime UTR variant | G/T | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.776 | 0.240 | 11 | 118606652 | 5 prime UTR variant | A/G;T | snv |
|
0.030 | 1.000 | 3 | 2011 | 2020 | |||||||||
|
0.742 | 0.160 | 15 | 40695330 | 5 prime UTR variant | G/C | snv | 0.12 |
|
0.020 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
0.020 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
0.763 | 0.120 | 10 | 87864059 | 5 prime UTR variant | -/G | delins | 7.2E-06 |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | ||||||||
|
0.790 | 0.200 | 14 | 80211923 | 5 prime UTR variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.653 | 0.400 | 3 | 36993455 | 5 prime UTR variant | G/A | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.020 | < 0.001 | 2 | 2005 | 2020 | ||||||||
|
0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 |
|
0.020 | 0.500 | 2 | 2009 | 2020 |