| 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 | 16 | 24576962 | downstream gene variant | A/C | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 3 | 49455048 | regulatory region variant | C/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 8 | 129652161 | intron variant | T/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.120 | 9 | 22115287 | intron variant | T/C;G | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.120 | 2 | 216188541 | intron variant | T/A | snv | 5.0E-02 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.689 | 0.320 | 2 | 100961475 | intron variant | G/A | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.120 | 8 | 129479506 | intron variant | T/G | snv | 0.17 |
|
0.810 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.070 | 0.571 | 7 | 2008 | 2018 | |||||||||
|
1.000 | 0.040 | 17 | 7514323 | non coding transcript exon variant | C/T | snv | 1.4E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.040 | 15 | 37098156 | missense variant | A/C | snv | 1.3E-04 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.080 | 0.875 | 8 | 2012 | 2017 | |||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 7 | 55177814 | intron variant | A/G | snv | 0.43 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.280 | 2 | 54283523 | intron variant | T/G | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 2 | 216128888 | intron variant | C/A | snv | 0.81 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.120 | 19 | 22032639 | non coding transcript exon variant | A/G | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.160 | 12 | 912349 | 3 prime UTR variant | T/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 11 | 96231355 | intron variant | C/T | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.240 | 10 | 113014168 | intron variant | A/G | snv | 0.55 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.752 | 0.200 | 10 | 87933144 | stop gained | G/A;T | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.925 | 0.080 | 10 | 87925518 | stop gained | T/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.662 | 0.360 | 17 | 7668434 | 3 prime UTR variant | T/G | snv | 8.3E-03 |
|
0.720 | 1.000 | 4 | 2012 | 2018 |