| 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 | 2 | 10048589 | frameshift variant | -/A | delins | 4.1E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 0.500 | 2 | 2014 | 2017 | |||||||||
|
1.000 | 0.040 | 13 | 33015697 | upstream gene variant | A/- | del | 0.21 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.827 | 0.160 | 6 | 20660803 | intron variant | A/C | snv | 0.40 |
|
0.020 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
0.925 | 0.080 | 1 | 160195305 | intron variant | A/C | snv | 0.38 |
|
0.020 | 0.500 | 2 | 2007 | 2013 | ||||||||
|
1.000 | 0.040 | 2 | 43636315 | upstream gene variant | A/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 3 | 185793096 | intron variant | A/C | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.120 | 8 | 125466108 | upstream gene variant | A/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.320 | 8 | 118952749 | upstream gene variant | A/C | snv | 9.6E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.790 | 0.120 | 19 | 49154952 | missense variant | A/C | snv | 0.41 | 0.38 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.160 | 4 | 38813881 | intron variant | A/C | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 17 | 17844052 | 3 prime UTR variant | A/C;G | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 5 | 39385539 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.240 | 6 | 31924707 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 1 | 47530532 | intergenic variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 20 | 44413723 | missense variant | A/C;G | snv | 4.0E-06; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
0.010 | < 0.001 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.040 | 12 | 63150429 | missense variant | A/C;G;T | snv | 0.60; 1.2E-05 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.280 | 7 | 150992309 | intron variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.040 | 19 | 5844781 | missense variant | A/C;G;T | snv | 0.18; 1.2E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.807 | 0.120 | 1 | 226888977 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 1999 | 1999 |