| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 |
|
0.080 | 1.000 | 8 | 2010 | 2019 | |||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.060 | 1.000 | 6 | 2004 | 2019 | ||||||||
|
0.627 | 0.680 | 4 | 153703504 | synonymous variant | T/C | snv | 0.40 | 0.48 |
|
0.040 | 0.750 | 4 | 2013 | 2019 | |||||||
|
0.662 | 0.640 | 10 | 52771475 | missense variant | C/T | snv | 0.14 | 0.11 |
|
0.030 | 0.667 | 3 | 2014 | 2019 | |||||||
|
0.776 | 0.240 | 10 | 52771466 | missense variant | C/T | snv | 3.2E-02 | 7.9E-02 |
|
0.030 | 1.000 | 3 | 2011 | 2019 | |||||||
|
0.752 | 0.320 | X | 12906707 | start lost | A/G | snv | 0.31 | 0.30 |
|
0.030 | 1.000 | 3 | 2011 | 2019 | |||||||
|
0.790 | 0.480 | 10 | 52772254 | upstream gene variant | G/C | snv | 0.31 |
|
0.020 | 0.500 | 2 | 2017 | 2019 | ||||||||
|
0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv |
|
0.020 | 1.000 | 2 | 2017 | 2019 | |||||||||
|
0.732 | 0.320 | 3 | 52224356 | intron variant | T/C | snv | 0.51 | 0.54 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | |||||||
|
0.752 | 0.360 | 10 | 52771482 | missense variant | G/A | snv | 5.6E-02 | 5.0E-02 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | |||||||
|
0.882 | 0.120 | 10 | 52771701 | upstream gene variant | G/A | snv | 0.30 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.708 | 0.480 | 10 | 52771925 | upstream gene variant | G/A;C;T | snv |
|
0.020 | 0.500 | 2 | 2014 | 2019 | |||||||||
|
0.807 | 0.120 | 2 | 85581859 | 3 prime UTR variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.732 | 0.560 | 9 | 117702866 | upstream gene variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.200 | 12 | 8533837 | 3 prime UTR variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 12 | 8535216 | intron variant | A/G | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 14 | 67651415 | missense variant | C/G;T | snv | 9.2E-02 | 8.8E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 9 | 117717837 | 3 prime UTR variant | T/C | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 4 | 74382717 | synonymous variant | A/G | snv | 0.79 | 0.79 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.120 | 9 | 117701903 | upstream gene variant | G/A | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.200 | 3 | 38137763 | upstream gene variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.752 | 0.440 | 11 | 112150193 | synonymous variant | T/A;G | snv | 4.2E-06; 0.29 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |