| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.100 | 0.955 | 22 | 2004 | 2019 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 0.952 | 21 | 2004 | 2019 | |||||||||
|
0.672 | 0.560 | 3 | 69964940 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 |
|
0.030 | 1.000 | 3 | 2014 | 2017 | |||||||
|
0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2017 | |||||||||
|
0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv |
|
0.020 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
0.827 | 0.120 | 9 | 21971200 | missense variant | C/G;T | snv | 9.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.040 | 1 | 236021631 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.040 | 1 | 212104247 | 3 prime UTR variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.742 | 0.320 | 12 | 25245348 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.649 | 0.320 | 6 | 396321 | intron variant | C/T | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.040 | 6 | 62856909 | intergenic variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.763 | 0.200 | 15 | 28120472 | intron variant | A/G | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 10 | 121500883 | missense variant | C/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.742 | 0.480 | 10 | 121515254 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.790 | 0.080 | 16 | 89919510 | missense variant | C/A;G | snv | 5.2E-03; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.040 | 2 | 222202200 | intron variant | C/G;T | snv | 0.11; 2.6E-05 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.683 | 0.320 | 9 | 21970917 | missense variant | C/A;G;T | snv | 2.1E-02 |
|
0.010 | < 0.001 | 1 | 2002 | 2002 | ||||||||
|
0.882 | 0.040 | 1 | 236016569 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.882 | 0.040 | 7 | 140753386 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.040 | 2 | 222297305 | intron variant | T/G | snv | 0.85 |
|
0.010 | 1.000 | 1 | 2013 | 2013 |