| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv |
|
0.060 | 0.833 | 6 | 2008 | 2017 | |||||||||
|
0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 |
|
0.060 | 0.667 | 6 | 2014 | 2019 | ||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.050 | 0.800 | 5 | 2006 | 2016 | ||||||||
|
0.776 | 0.120 | 11 | 125637491 | missense variant | T/C | snv | 8.1E-06 |
|
0.050 | 0.800 | 5 | 2007 | 2013 | ||||||||
|
0.662 | 0.440 | 3 | 37012077 | missense variant | A/C;G;T | snv | 0.23 |
|
0.050 | 0.800 | 5 | 2007 | 2017 | ||||||||
|
0.752 | 0.200 | 7 | 45921046 | missense variant | G/A;C;T | snv | 0.38 |
|
0.050 | 0.400 | 5 | 2007 | 2018 | ||||||||
|
0.790 | 0.160 | 3 | 37014530 | missense variant | T/C | snv | 2.0E-05 |
|
0.050 | 1.000 | 5 | 2002 | 2008 | ||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.040 | 0.750 | 4 | 2015 | 2019 | |||||||||
|
0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv |
|
0.040 | 0.750 | 4 | 2014 | 2015 | |||||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
0.040 | 1.000 | 4 | 2010 | 2013 | ||||||||
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.740 | 1.000 | 4 | 2017 | 2019 | ||||||||
|
0.708 | 0.320 | 13 | 49630889 | missense variant | T/C;G | snv | 0.39 |
|
0.040 | 0.750 | 4 | 2006 | 2011 | ||||||||
|
0.742 | 0.280 | 2 | 47475171 | missense variant | G/A;C | snv | 1.6E-05 |
|
0.040 | 1.000 | 4 | 2004 | 2011 | ||||||||
|
0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 |
|
0.040 | 1.000 | 4 | 2005 | 2012 | ||||||||
|
0.790 | 0.120 | 7 | 55191837 | missense variant | G/A | snv |
|
0.040 | 1.000 | 4 | 2016 | 2019 | |||||||||
|
0.807 | 0.160 | 8 | 127519892 | intergenic variant | T/A;C | snv |
|
0.030 | 1.000 | 3 | 2008 | 2014 | |||||||||
|
0.732 | 0.280 | 2 | 47783349 | missense variant | G/A;C;T | snv | 0.18; 8.6E-06 |
|
0.030 | 0.667 | 3 | 2009 | 2018 | ||||||||
|
0.776 | 0.280 | 10 | 94981296 | missense variant | A/C;G | snv | 6.3E-02; 4.0E-06 |
|
0.030 | 1.000 | 3 | 2007 | 2014 | ||||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 2008 | 2019 | ||||||||
|
0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv |
|
0.030 | 1.000 | 3 | 2016 | 2019 | |||||||||
|
0.763 | 0.360 | 3 | 122120794 | 3 prime UTR variant | G/A;C | snv |
|
0.030 | 1.000 | 3 | 2011 | 2019 | |||||||||
|
0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 |
|
0.030 | 0.667 | 3 | 2007 | 2016 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.030 | 1.000 | 3 | 2012 | 2014 | ||||||||
|
0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 |
|
0.030 | 1.000 | 3 | 2014 | 2019 | ||||||||
|
0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 |
|
0.030 | 1.000 | 3 | 2007 | 2018 |