| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 21 | 46271302 | intron variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 21 | 22474790 | intergenic variant | A/T | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.090 | 0.778 | 9 | 2004 | 2019 | ||||||||
|
0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 |
|
0.060 | 0.667 | 6 | 2004 | 2019 | |||||||
|
0.708 | 0.440 | 8 | 6877901 | 5 prime UTR variant | C/G;T | snv | 0.79 |
|
0.030 | 0.667 | 3 | 2015 | 2019 | ||||||||
|
0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 |
|
0.030 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
0.620 | 0.560 | 5 | 140633331 | intron variant | A/G | snv | 0.57 |
|
0.030 | 0.667 | 3 | 2016 | 2019 | ||||||||
|
0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 |
|
0.030 | 1.000 | 3 | 2013 | 2017 | |||||||
|
0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 |
|
0.020 | 1.000 | 2 | 2014 | 2019 | |||||||
|
0.742 | 0.360 | 8 | 6877877 | 5 prime UTR variant | C/T | snv | 0.43 | 0.40 |
|
0.020 | 1.000 | 2 | 2017 | 2019 | |||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.020 | 1.000 | 2 | 2013 | 2016 | |||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.020 | 1.000 | 2 | 2013 | 2016 | |||||||||
|
0.882 | 0.120 | 4 | 73739815 | upstream gene variant | T/C | snv | 2.9E-02 |
|
0.020 | 0.500 | 2 | 2015 | 2017 | ||||||||
|
0.827 | 0.120 | 19 | 39298475 | missense variant | A/G | snv | 0.13 | 0.25 |
|
0.020 | < 0.001 | 2 | 2015 | 2019 | |||||||
|
0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 |
|
0.020 | 0.500 | 2 | 2015 | 2017 | ||||||||
|
0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 |
|
0.020 | 0.500 | 2 | 2004 | 2010 | |||||||
|
0.925 | 0.040 | 2 | 8802974 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 9 | 120980540 | intron variant | G/A | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.160 | 1 | 100718269 | upstream gene variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.160 | 6 | 52187159 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.807 | 0.200 | 3 | 46459778 | missense variant | C/T | snv | 0.34 | 0.53 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.763 | 0.240 | 3 | 46459723 | missense variant | T/C | snv | 0.41 | 0.51 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |