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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
1.000 | 0.877 | 68 | 2005 | 2019 | |||||||
|
1.000 | 0.120 | 2 | 112921052 | downstream gene variant | A/G | snv | 0.93 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 6 | 44300181 | 3 prime UTR variant | A/G | snv | 0.88 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.200 | 8 | 133230265 | 3 prime UTR variant | G/T | snv | 0.85 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.480 | 18 | 12779948 | upstream gene variant | G/T | snv | 0.83 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.160 | 5 | 157104725 | missense variant | C/A | snv | 0.87 | 0.83 |
|
0.020 | 1.000 | 2 | 2011 | 2019 | |||||||
|
0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.120 | 17 | 5517008 | intron variant | C/T | snv | 0.82 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.120 | 11 | 112155980 | intron variant | A/G | snv | 0.82 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 |
|
0.730 | 0.750 | 3 | 2012 | 2017 | |||||||
|
0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 |
|
0.900 | 0.966 | 26 | 2007 | 2017 | ||||||||
|
0.763 | 0.360 | 2 | 191105153 | intron variant | G/C | snv | 0.79 |
|
0.820 | 1.000 | 2 | 2012 | 2017 | ||||||||
|
0.851 | 0.240 | 7 | 106285885 | 5 prime UTR variant | C/A | snv | 0.79 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.752 | 0.320 | 6 | 20728500 | intron variant | T/C | snv | 0.78 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.360 | 4 | 122617757 | intron variant | C/T | snv | 0.77 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.763 | 0.360 | 6 | 106120159 | intron variant | C/T | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 2 | 62294109 | intergenic variant | G/T | snv | 0.76 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 |
|
0.020 | 1.000 | 2 | 2005 | 2011 | ||||||||
|
0.742 | 0.320 | 9 | 114790605 | synonymous variant | T/C | snv | 0.71 | 0.75 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.752 | 0.320 | 9 | 114806486 | upstream gene variant | A/G | snv | 0.74 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.732 | 0.320 | 9 | 114806766 | upstream gene variant | T/C | snv | 0.74 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.360 | 11 | 117998955 | missense variant | A/G | snv | 0.74 | 0.74 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.120 | 1 | 42243181 | intron variant | T/A;C | snv | 0.73 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.120 | 5 | 35878825 | 3 prime UTR variant | T/C | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.689 | 0.600 | 6 | 52185695 | upstream gene variant | C/T | snv | 0.72 |
|
0.030 | 0.333 | 3 | 2015 | 2019 |