| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
0.040 | 0.750 | 4 | 2010 | 2016 | |||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.020 | 1.000 | 2 | 2007 | 2014 | |||||||
|
0.807 | 0.240 | 19 | 7166365 | synonymous variant | C/G;T | snv | 4.0E-06; 0.26 |
|
0.020 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 |
|
0.020 | 1.000 | 2 | 2001 | 2016 | |||||||
|
0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.020 | 1.000 | 2 | 2006 | 2018 | |||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
0.020 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 15 | 90528542 | upstream gene variant | T/C | snv | 0.88 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.160 | 8 | 19966981 | 3 prime UTR variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
8 | 26756585 | 3 prime UTR variant | G/C | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
0.882 | 0.120 | 1 | 156135271 | missense variant | A/G | snv | 4.8E-04 | 1.6E-04 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.200 | 6 | 26094139 | intron variant | G/A;T | snv | 0.52; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.120 | 12 | 89666809 | intron variant | G/A | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 5 | 96429259 | missense variant | C/A;T | snv | 4.0E-06; 2.1E-03 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.790 | 0.160 | 10 | 111076745 | upstream gene variant | G/C | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.701 | 0.440 | 3 | 186842993 | intron variant | G/A | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
7 | 143262206 | intron variant | G/A;T | snv | 1.8E-02 |
|
0.010 | 1.000 | 1 | 2009 | 2009 |