| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.100 | 0.818 | 11 | 1999 | 2018 | ||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.090 | 0.778 | 9 | 2002 | 2012 | ||||||||
|
0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.060 | 1.000 | 6 | 1999 | 2012 | ||||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
0.050 | 1.000 | 5 | 2001 | 2019 | ||||||||
|
0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 |
|
0.040 | 1.000 | 4 | 2001 | 2012 | ||||||||
|
0.683 | 0.400 | 4 | 2904980 | missense variant | G/A;T | snv | 1.2E-05; 0.20 |
|
0.040 | 1.000 | 4 | 2001 | 2020 | ||||||||
|
0.752 | 0.240 | 7 | 130023656 | missense variant | C/A;T | snv | 4.0E-06; 0.28 |
|
0.030 | 1.000 | 3 | 2013 | 2019 | ||||||||
|
0.776 | 0.120 | 1 | 55057454 | missense variant | G/A;C;T | snv | 7.2E-05 |
|
0.030 | 1.000 | 3 | 2010 | 2018 | ||||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.030 | 1.000 | 3 | 2003 | 2014 | |||||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
0.030 | 0.667 | 3 | 2008 | 2010 | |||||||||
|
0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 |
|
0.020 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
0.807 | 0.120 | 11 | 116836082 | missense variant | C/A | snv | 4.2E-06 |
|
0.020 | 1.000 | 2 | 2012 | 2015 | ||||||||
|
0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2009 | 2018 | ||||||||
|
0.724 | 0.320 | 20 | 388261 | missense variant | A/G;T | snv | 0.18; 4.0E-06 |
|
0.020 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 |
|
0.020 | 1.000 | 2 | 1999 | 2012 | ||||||||
|
0.925 | 0.040 | 11 | 89340157 | frameshift variant | G/- | delins |
|
0.020 | 1.000 | 2 | 2016 | 2017 | |||||||||
|
0.790 | 0.120 | 19 | 11113680 | missense variant | G/T | snv |
|
0.020 | 1.000 | 2 | 2010 | 2013 | |||||||||
|
0.807 | 0.120 | 6 | 31815431 | upstream gene variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.807 | 0.120 | 2 | 85581859 | 3 prime UTR variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.807 | 0.160 | 3 | 46373738 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.752 | 0.280 | 6 | 31815730 | 5 prime UTR variant | G/A;C;T | snv | 0.39; 2.0E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.683 | 0.320 | 17 | 80385145 | missense variant | G/A;C | snv | 2.6E-04; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.732 | 0.400 | 8 | 19954222 | missense variant | G/A;C | snv | 1.9E-04 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.708 | 0.280 | 6 | 133893387 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.851 | 0.080 | 12 | 12164494 | missense variant | G/A | snv | 1.6E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 |