| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.120 | 1 | 24964519 | missense variant | A/T | snv | 0.56 | 0.50 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.677 | 0.360 | 4 | 38797027 | missense variant | C/A | snv | 0.53 | 0.51 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.851 | 0.120 | 9 | 5081780 | synonymous variant | G/A | snv | 0.53 | 0.62 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.637 | 0.600 | 1 | 67168129 | missense variant | G/T | snv | 0.52 | 0.51 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.695 | 0.320 | 13 | 102852167 | synonymous variant | T/C | snv | 0.52 | 0.59 |
|
0.030 | 0.667 | 3 | 2009 | 2017 | |||||||
|
0.763 | 0.160 | 7 | 55146655 | synonymous variant | C/T | snv | 0.51 | 0.51 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.040 | 0.750 | 4 | 2008 | 2017 | ||||||||
|
0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 |
|
0.060 | 1.000 | 6 | 2014 | 2016 | |||||||
|
0.925 | 0.080 | 10 | 29602392 | intron variant | T/C | snv | 0.48 | 0.48 |
|
0.020 | 1.000 | 2 | 2012 | 2017 | |||||||
|
0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 |
|
0.020 | 1.000 | 2 | 2010 | 2010 | |||||||
|
0.882 | 0.120 | 19 | 55368504 | synonymous variant | C/G;T | snv | 4.1E-06; 0.48 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.020 | 1.000 | 2 | 2012 | 2014 | |||||||
|
0.724 | 0.240 | 8 | 142681514 | 3 prime UTR variant | G/A | snv | 0.46 | 0.45 |
|
0.100 | 0.909 | 11 | 2009 | 2019 | |||||||
|
0.672 | 0.320 | 8 | 142680513 | 5 prime UTR variant | C/T | snv | 0.46 | 0.45 |
|
0.100 | 0.968 | 31 | 2009 | 2019 | |||||||
|
0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.790 | 0.160 | 8 | 142681306 | intron variant | C/A;G | snv | 0.42; 2.5E-04 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.030 | 1.000 | 3 | 2009 | 2013 | ||||||||
|
0.807 | 0.160 | 3 | 14178595 | 5 prime UTR variant | C/G | snv | 0.42 | 0.43 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.662 | 0.520 | 11 | 1997623 | non coding transcript exon variant | G/A | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.120 | 10 | 17162188 | missense variant | G/A | snv | 0.41 | 0.44 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |