| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.030 | 0.667 | 3 | 2013 | 2017 | ||||||||
|
0.882 | 0.080 | 1 | 15524118 | missense variant | G/A | snv | 0.50 | 0.59 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
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 | 12188800 | missense variant | C/T | snv | 4.0E-06 |
|
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 | ||||||||
|
0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
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 | ||||||||
|
0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
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 | ||||||||
|
0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 |
|
0.020 | 0.500 | 2 | 2013 | 2015 | |||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.763 | 0.200 | 2 | 113116890 | intron variant | T/C | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 |
|
0.020 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 38830874 | intron variant | C/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 |
|
0.080 | 0.875 | 8 | 2005 | 2015 | |||||||
|
0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.240 | 6 | 46716485 | missense variant | C/A;T | snv | 4.0E-06; 0.31 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.200 | 6 | 137866361 | intron variant | C/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.672 | 0.440 | 6 | 46709361 | missense variant | C/A | snv | 4.5E-03 | 1.3E-03 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.776 | 0.280 | 7 | 142749077 | upstream gene variant | T/A;C | snv |
|
0.030 | 1.000 | 3 | 2017 | 2020 | |||||||||
|
0.742 | 0.120 | 7 | 142751938 | missense variant | G/A | snv | 1.2E-05 |
|
0.030 | 1.000 | 3 | 2006 | 2012 | ||||||||
|
0.742 | 0.120 | 7 | 142751938 | missense variant | GC/AT | mnv |
|
0.030 | 1.000 | 3 | 2006 | 2012 | |||||||||
|
0.677 | 0.280 | 7 | 142750639 | missense variant | A/G | snv | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2012 | 2015 | ||||||||
|
0.790 | 0.160 | 7 | 142774035 | missense variant | G/A | snv | 1.4E-02 |
|
0.020 | 1.000 | 2 | 2009 | 2011 |