| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.160 | 13 | 108204435 | downstream gene variant | C/A | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.790 | 0.320 | 6 | 31106253 | downstream gene variant | A/C | snv | 0.66 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.240 | 3 | 3179746 | upstream gene variant | C/T | snv | 0.71 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.240 | 16 | 27312083 | upstream gene variant | C/T | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.160 | 3 | 3180101 | upstream gene variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.763 | 0.440 | 2 | 203866221 | upstream gene variant | T/C | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
0.050 | 1.000 | 5 | 2012 | 2018 | |||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.653 | 0.480 | 11 | 69648142 | splice region variant | G/A | snv | 0.45 | 0.39 |
|
0.710 | 1.000 | 1 | 2013 | 2017 | |||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 1.000 | 2 | 2012 | 2017 | |||||||||
|
1.000 | 0.160 | 6 | 30899750 | 3 prime UTR variant | G/A | snv | 7.6E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.160 | 6 | 31164363 | 3 prime UTR variant | G/A | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.280 | 6 | 31162816 | 3 prime UTR variant | G/A | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.742 | 0.360 | 6 | 411064 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.060 | 0.833 | 6 | 2009 | 2019 | ||||||||
|
0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 |
|
0.020 | 1.000 | 2 | 2011 | 2017 | |||||||
|
0.925 | 0.200 | 6 | 30897052 | synonymous variant | T/C | snv | 0.47 | 0.43 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 |
|
0.810 | 1.000 | 1 | 2013 | 2014 | |||||||
|
1.000 | 0.160 | 1 | 15504663 | synonymous variant | G/A | snv | 4.4E-05 | 1.0E-04 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.160 | 3 | 3149742 | non coding transcript exon variant | T/C | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.200 | 13 | 91354516 | non coding transcript exon variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 |