| 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 | 0.080 | 21 | 42317828 | upstream gene variant | G/A | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 17 | 39651445 | intron variant | A/C | snv | 0.66 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.120 | 3 | 114643917 | intron variant | C/G;T | snv |
|
0.720 | 0.667 | 2 | 2011 | 2016 | |||||||||
|
0.925 | 0.080 | 13 | 91351335 | mature miRNA variant | G/A;C | snv | 5.4E-03; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 2 | 113063623 | 3 prime UTR variant | T/C | snv | 0.65 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.120 | 13 | 73322084 | intergenic variant | A/G | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.120 | 6 | 1339954 | intergenic variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.080 | 6 | 41751177 | intron variant | G/C | snv | 0.19 |
|
0.020 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.851 | 0.200 | 1 | 155179278 | intron variant | A/T | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 6 | 52240869 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.716 | 0.200 | 12 | 68808384 | 5 prime UTR variant | A/G | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.790 | 0.160 | 8 | 142670817 | intron variant | T/C;G | snv |
|
0.020 | 1.000 | 2 | 2012 | 2013 | |||||||||
|
0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 |
|
0.040 | 1.000 | 4 | 2015 | 2020 | ||||||||
|
0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 20 | 56382507 | intron variant | G/A;C | snv |
|
0.020 | 1.000 | 2 | 2017 | 2019 | |||||||||
|
0.641 | 0.600 | 6 | 31572536 | intron variant | A/G;T | snv |
|
0.020 | 1.000 | 2 | 2012 | 2018 | |||||||||
|
0.851 | 0.160 | 2 | 113133835 | 3 prime UTR variant | G/A | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 |
|
0.060 | 0.833 | 6 | 2010 | 2019 | |||||||
|
0.925 | 0.080 | 10 | 33334322 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.732 | 0.360 | 5 | 56736057 | regulatory region variant | C/A | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 17333552 | intron variant | A/G | snv | 0.64 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 17 | 39653965 | intron variant | C/G | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.080 | 0.875 | 8 | 2009 | 2015 | |||||||||
|
0.677 | 0.360 | 13 | 102875987 | 3 prime UTR variant | G/A | snv | 0.59 |
|
0.020 | 1.000 | 2 | 2016 | 2017 |