| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.400 | 6 | 32460508 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 4 | 2010 | 2014 | |||||||||
|
0.925 | 0.160 | 8 | 128180025 | intron variant | T/C | snv | 0.27 |
|
0.800 | 1.000 | 3 | 2010 | 2014 | ||||||||
|
1.000 | 0.120 | 2 | 60839531 | intron variant | G/A | snv | 0.69 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.020 | 0.500 | 2 | 2013 | 2018 | ||||||||
|
0.724 | 0.360 | 6 | 32465390 | intron variant | G/T | snv | 0.29 |
|
0.800 | 1.000 | 2 | 2012 | 2013 | ||||||||
|
0.827 | 0.160 | 6 | 29850791 | intron variant | T/C | snv | 0.10 |
|
0.700 | 1.000 | 2 | 2012 | 2014 | ||||||||
|
0.827 | 0.160 | 3 | 188236626 | intron variant | A/C | snv | 0.88 |
|
0.700 | 1.000 | 2 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 6 | 137660447 | intron variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.240 | 9 | 134340689 | intron variant | A/G | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.160 | 3 | 136870707 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.280 | 2 | 172446825 | intron variant | A/G | snv | 4.9E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.160 | 22 | 50511648 | intron variant | T/-;TT;TTT;TTTT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.120 | 8 | 128064327 | intron variant | C/T | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.160 | 2 | 230279864 | intron variant | CTGCCTC/-;CTGCCTCCTGCCTC | delins | 0.15 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.724 | 0.480 | 8 | 127112671 | intron variant | C/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.658 | 0.400 | 1 | 206776020 | intron variant | A/T | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.160 | 12 | 74276187 | intron variant | T/C | snv | 1.5E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.120 | 19 | 1650135 | intron variant | A/C;G | snv | 6.7E-06; 0.54 |
|
0.810 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.240 | 6 | 32187804 | intron variant | A/G | snv | 0.24 | 0.26 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.120 | 5 | 132662721 | intron variant | G/A | snv | 7.5E-02 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.160 | 6 | 33579153 | intron variant | T/C | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 6 | 31146796 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.160 | 6 | 31629976 | intron variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.240 | 9 | 34521869 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.320 | 8 | 140551294 | intron variant | G/C;T | snv | 0.57; 4.9E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |