| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.730 | 1.000 | 3 | 2008 | 2016 | ||||||||
|
0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv |
|
0.030 | 1.000 | 3 | 2013 | 2017 | |||||||||
|
0.701 | 0.360 | 9 | 97697296 | 5 prime UTR variant | T/C;G | snv | 0.63; 4.5E-06; 4.5E-06 |
|
0.030 | 1.000 | 3 | 2011 | 2018 | ||||||||
|
0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 |
|
0.030 | 1.000 | 3 | 2007 | 2015 | ||||||||
|
0.653 | 0.400 | 19 | 45423658 | intron variant | C/A;T | snv |
|
0.030 | 1.000 | 3 | 2011 | 2014 | |||||||||
|
0.851 | 0.080 | 13 | 91792975 | intron variant | C/G;T | snv |
|
0.030 | 1.000 | 3 | 2010 | 2015 | |||||||||
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.030 | 0.667 | 3 | 1993 | 2019 | ||||||||
|
0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 2011 | 2017 | ||||||||
|
0.732 | 0.240 | 17 | 39727965 | missense variant | G/A;C;T | snv | 3.2E-05; 2.4E-05; 1.2E-05 |
|
0.030 | 1.000 | 3 | 2006 | 2016 | ||||||||
|
0.790 | 0.160 | 1 | 15524988 | intron variant | G/A;C | snv |
|
0.030 | 1.000 | 3 | 2010 | 2013 | |||||||||
|
0.763 | 0.280 | 15 | 43475576 | missense variant | G/C;T | snv | 0.36; 4.0E-06 |
|
0.030 | 1.000 | 3 | 2010 | 2011 | ||||||||
|
0.807 | 0.160 | 11 | 108354934 | 3 prime UTR variant | A/G;T | snv |
|
0.030 | 1.000 | 3 | 2012 | 2017 | |||||||||
|
0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.030 | 1.000 | 3 | 2013 | 2016 | ||||||||
|
0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv |
|
0.030 | 1.000 | 3 | 2014 | 2017 | |||||||||
|
0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 2004 | 2011 | ||||||||
|
0.851 | 0.080 | 15 | 78533838 | 3 prime UTR variant | G/A;C | snv |
|
0.030 | 1.000 | 3 | 2009 | 2015 | |||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.020 | 1.000 | 2 | 2007 | 2015 | ||||||||
|
0.851 | 0.080 | 15 | 90085305 | synonymous variant | G/A;C | snv | 3.5E-02; 6.4E-06 |
|
0.020 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.020 | 0.500 | 2 | 1993 | 2019 | ||||||||
|
0.672 | 0.440 | 12 | 25227342 | missense variant | T/A;C;G | snv |
|
0.020 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
0.807 | 0.160 | 7 | 140924673 | missense variant | C/T | snv | 9.3E-06 |
|
0.020 | 1.000 | 2 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 18 | 50273809 | missense variant | G/A;C | snv | 3.6E-05; 0.19 |
|
0.020 | 1.000 | 2 | 2005 | 2008 | ||||||||
|
0.776 | 0.280 | 13 | 108210293 | missense variant | A/T | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2004 | 2012 | ||||||||
|
0.724 | 0.360 | 13 | 30467458 | intron variant | C/G;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2018 | |||||||||
|
0.752 | 0.200 | 17 | 7674797 | non coding transcript exon variant | T/A;C;G | snv | 9.1E-06; 0.86; 4.5E-06 |
|
0.020 | 1.000 | 2 | 2007 | 2007 |