| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.020 | 1.000 | 2 | 2007 | 2012 | |||||||||
|
0.851 | 0.080 | 13 | 28028203 | missense variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.240 | 7 | 50398606 | intron variant | A/G | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.716 | 0.320 | 9 | 104818690 | synonymous variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.776 | 0.240 | 8 | 92005229 | missense variant | C/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.742 | 0.240 | 14 | 23119848 | upstream gene variant | G/A | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.695 | 0.320 | 1 | 11262571 | upstream gene variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.742 | 0.280 | 19 | 40257052 | stop gained | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.763 | 0.320 | 1 | 243695714 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.763 | 0.240 | 7 | 50402906 | 3 prime UTR variant | T/G | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.160 | 8 | 103141321 | non coding transcript exon variant | G/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.240 | 6 | 26091479 | stop gained | G/A | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.732 | 0.360 | 7 | 100633100 | stop gained | G/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.807 | 0.200 | 17 | 78213692 | upstream gene variant | G/C | snv | 0.33 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.040 | 1.000 | 4 | 2002 | 2018 | |||||||
|
0.732 | 0.360 | 6 | 26092860 | stop gained | C/G;T | snv | 4.0E-06; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.776 | 0.240 | 6 | 26092916 | missense variant | A/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.672 | 0.480 | 19 | 41006936 | missense variant | G/A;T | snv | 4.0E-06; 0.27 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.776 | 0.240 | 8 | 92005280 | synonymous variant | C/A | snv | 4.0E-06 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 2 | 37222420 | missense variant | T/C;G | snv | 4.2E-06; 4.2E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |