| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 |
|
0.870 | 1.000 | 5 | 2004 | 2019 | ||||||||
|
0.752 | 0.240 | 22 | 28695800 | missense variant | T/A;C;G | snv | 2.4E-05 |
|
0.810 | 1.000 | 8 | 2002 | 2018 | ||||||||
|
0.807 | 0.200 | 17 | 43063903 | missense variant | G/A;C;T | snv | 2.8E-05; 4.0E-06; 2.0E-05 |
|
0.810 | 0.833 | 5 | 2002 | 2014 | ||||||||
|
0.763 | 0.280 | 17 | 43063931 | missense variant | G/A;T | snv | 2.4E-05; 8.0E-06 |
|
0.810 | 1.000 | 5 | 2004 | 2014 | ||||||||
|
0.851 | 0.200 | 13 | 32394803 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.810 | 1.000 | 0 | 2014 | 2014 | ||||||||
|
0.827 | 0.200 | 17 | 43082434 | stop gained | G/A;C | snv | 2.4E-05; 3.2E-05 |
|
0.800 | 1.000 | 25 | 1994 | 2017 | ||||||||
|
0.790 | 0.240 | 13 | 32380043 | missense variant | C/T | snv | 1.2E-05 |
|
0.800 | 1.000 | 25 | 1997 | 2014 | ||||||||
|
0.882 | 0.200 | 17 | 43076488 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 25 | 1994 | 2017 | ||||||||
|
0.763 | 0.320 | 13 | 32363369 | missense variant | G/A;C | snv | 7.0E-06 |
|
0.800 | 1.000 | 5 | 2004 | 2014 | ||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.800 | 1.000 | 1 | 2006 | 2019 | ||||||||
|
0.763 | 0.320 | 13 | 32362596 | missense variant | A/G;T | snv |
|
0.800 | 0 | ||||||||||||
|
0.882 | 0.080 | 7 | 116559145 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
0.780 | 1.000 | 0 | 2002 | 2013 | |||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.770 | 1.000 | 0 | 2008 | 2019 | ||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.760 | 1.000 | 1 | 2006 | 2019 | ||||||||
|
0.807 | 0.160 | 17 | 43104122 | missense variant | C/A;G | snv | 1.2E-05 |
|
0.740 | 0.958 | 20 | 1994 | 2017 | ||||||||
|
0.763 | 0.280 | 17 | 43063930 | missense variant | C/A;G;T | snv | 2.4E-05 |
|
0.730 | 1.000 | 20 | 1994 | 2019 | ||||||||
|
0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv |
|
0.730 | 1.000 | 0 | 2014 | 2019 | |||||||||
|
0.827 | 0.240 | 13 | 32363389 | missense variant | G/A;T | snv | 7.9E-04 |
|
0.730 | 1.000 | 0 | 2003 | 2017 | ||||||||
|
0.925 | 0.080 | 14 | 67766404 | missense variant | C/T | snv | 8.8E-05 | 9.1E-05 |
|
0.720 | 1.000 | 0 | 2011 | 2011 | |||||||
|
0.790 | 0.280 | 17 | 43051071 | missense variant | A/C;T | snv | 1.2E-05 |
|
0.710 | 1.000 | 20 | 1994 | 2017 | ||||||||
|
0.851 | 0.120 | 17 | 43104138 | missense variant | G/T | snv | 1.0E-04 | 4.2E-05 |
|
0.710 | 1.000 | 20 | 1994 | 2017 | |||||||
|
0.925 | 0.080 | 17 | 43047699 | stop gained | A/T | snv | 9.9E-05 | 2.0E-04 |
|
0.710 | 1.000 | 20 | 1994 | 2017 | |||||||
|
0.882 | 0.200 | 17 | 43097266 | missense variant | C/T | snv | 3.0E-04 | 2.2E-04 |
|
0.710 | 0.952 | 20 | 1994 | 2017 | |||||||
|
0.925 | 0.080 | 13 | 32339667 | missense variant | G/A;T | snv | 3.4E-04; 4.0E-06 |
|
0.710 | 1.000 | 20 | 1997 | 2016 | ||||||||
|
0.882 | 0.080 | 15 | 40718818 | missense variant | G/A | snv | 3.7E-04 | 1.7E-03 |
|
0.710 | 1.000 | 7 | 2000 | 2015 |