| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 16 | 868990 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 1 | 15518120 | missense variant | A/C;G;T | snv | 0.53 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 1 | 204160543 | intron variant | A/C;G;T | snv | 0.25; 2.0E-05; 1.2E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.742 | 0.280 | 7 | 142750600 | missense variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.677 | 0.280 | 7 | 142750639 | missense variant | A/G | snv | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2012 | 2015 | ||||||||
|
0.763 | 0.120 | 16 | 84845883 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2005 | 2008 | |||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 10 | 113721138 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.030 | 0.667 | 3 | 2007 | 2014 | ||||||||
|
0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 |
|
0.020 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
0.708 | 0.320 | 22 | 35380679 | intron variant | A/T | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.672 | 0.440 | 6 | 46709361 | missense variant | C/A | snv | 4.5E-03 | 1.3E-03 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.683 | 0.400 | 17 | 7675143 | missense variant | C/A;T | snv | 4.0E-05 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.240 | 6 | 46716485 | missense variant | C/A;T | snv | 4.0E-06; 0.31 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.040 | 1 | 15440540 | synonymous variant | C/A;T | snv | 3.7E-03; 9.1E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.120 | 8 | 19955900 | missense variant | C/G | snv | 1.1E-04 | 6.3E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.827 | 0.200 | X | 107001537 | upstream gene variant | C/T | snv | 0.19 |
|
0.020 | 1.000 | 2 | 2018 | 2020 | ||||||||
|
1.000 | 0.040 | 1 | 12188800 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.200 | 6 | 137866361 | intron variant | C/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 4 | 38830874 | intron variant | C/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |