| 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 | 0.240 | 6 | 31857051 | downstream gene variant | A/G | snv | 0.88 |
|
0.710 | 1.000 | 1 | 2010 | 2018 | ||||||||
|
1.000 | 0.080 | 3 | 122077921 | splice region variant | G/A | snv | 7.0E-02 |
|
0.820 | 1.000 | 1 | 2011 | 2018 | ||||||||
|
0.790 | 0.320 | 6 | 159044945 | 5 prime UTR variant | T/C | snv | 0.49 |
|
0.810 | 1.000 | 2 | 2011 | 2017 | ||||||||
|
1.000 | 0.080 | 1 | 92655550 | intron variant | G/C | snv | 0.57 |
|
0.710 | 1.000 | 1 | 2011 | 2017 | ||||||||
|
1.000 | 0.080 | 1 | 92682820 | intron variant | C/T | snv | 0.20 |
|
0.810 | 1.000 | 1 | 2011 | 2017 | ||||||||
|
1.000 | 0.080 | 17 | 59946914 | 3 prime UTR variant | A/G | snv | 0.33 |
|
0.820 | 1.000 | 1 | 2011 | 2017 | ||||||||
|
0.732 | 0.440 | 5 | 159395637 | intron variant | G/C | snv | 0.35 |
|
0.720 | 0.667 | 1 | 2011 | 2017 | ||||||||
|
0.925 | 0.160 | 3 | 105867870 | intron variant | T/A;C | snv |
|
0.830 | 0.750 | 1 | 2010 | 2017 | |||||||||
|
1.000 | 0.080 | 11 | 60993140 | intron variant | C/A;G | snv |
|
0.850 | 1.000 | 2 | 2009 | 2016 | |||||||||
|
0.752 | 0.400 | 6 | 31810495 | missense variant | G/A;C;T | snv | 0.87 |
|
0.710 | 1.000 | 1 | 2010 | 2016 | ||||||||
|
0.790 | 0.400 | 20 | 54174979 | upstream gene variant | C/T | snv | 0.47 |
|
0.820 | 1.000 | 1 | 2011 | 2016 | ||||||||
|
1.000 | 0.080 | 3 | 122050675 | upstream gene variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2011 | 2016 | |||||||||
|
1.000 | 0.080 | 9 | 90801254 | upstream gene variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 1 | 2011 | 2016 | ||||||||
|
1.000 | 0.080 | 19 | 47158236 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2011 | 2016 | |||||||||
|
1.000 | 0.080 | 3 | 121941817 | 3 prime UTR variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2011 | 2016 | |||||||||
|
1.000 | 0.080 | 3 | 28029953 | intron variant | A/C | snv | 0.38 |
|
0.800 | 1.000 | 1 | 2011 | 2016 | ||||||||
|
0.925 | 0.160 | 5 | 56142753 | intron variant | C/A | snv | 0.20 |
|
0.810 | 1.000 | 1 | 2011 | 2016 | ||||||||
|
1.000 | 0.080 | 3 | 102029794 | regulatory region variant | A/G | snv | 0.70 |
|
0.800 | 1.000 | 1 | 2011 | 2016 | ||||||||
|
1.000 | 0.080 | 2 | 230242009 | intron variant | C/T | snv | 0.13 |
|
0.810 | 1.000 | 1 | 2011 | 2015 | ||||||||
|
0.925 | 0.120 | 12 | 57670954 | upstream gene variant | A/C;T | snv |
|
0.710 | 1.000 | 1 | 2009 | 2015 | |||||||||
|
0.925 | 0.120 | 8 | 78488803 | intron variant | A/G | snv | 0.40 |
|
0.810 | 1.000 | 1 | 2011 | 2015 | ||||||||
|
0.763 | 0.480 | 6 | 32696074 | intergenic variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2007 | 2015 | |||||||||
|
0.882 | 0.200 | 16 | 11310036 | intron variant | C/T | snv | 0.13 |
|
0.710 | 1.000 | 1 | 2011 | 2014 | ||||||||
|
0.827 | 0.320 | 6 | 32438565 | upstream gene variant | A/C | snv | 0.59 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.925 | 0.120 | 19 | 6668961 | intron variant | C/G;T | snv |
|
0.810 | 1.000 | 1 | 2011 | 2013 |