| 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 | 0.160 | 6 | 160073377 | missense variant | A/C;G;T | snv | 0.90 | 0.91 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.776 | 0.240 | 14 | 64415662 | missense variant | A/G | snv | 0.83 | 0.83 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 3 | 190312891 | synonymous variant | A/C;G;T | snv | 8.0E-06; 0.83; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.752 | 0.320 | 5 | 112841059 | missense variant | T/A;G | snv | 0.79 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.689 | 0.320 | 6 | 151944387 | synonymous variant | G/C | snv | 0.73 | 0.80 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.700 | 1.000 | 4 | 2015 | 2019 | ||||||||
|
0.925 | 0.080 | 17 | 7260420 | missense variant | A/G | snv | 0.65 | 0.70 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.790 | 0.080 | 1 | 62207365 | missense variant | T/C | snv | 0.63 | 0.67 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.732 | 0.320 | 3 | 52224356 | intron variant | T/C | snv | 0.51 | 0.54 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.040 | 0.500 | 4 | 2005 | 2009 | ||||||||
|
0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.020 | 1.000 | 2 | 2011 | 2013 | |||||||
|
0.732 | 0.320 | 6 | 151807942 | synonymous variant | T/A;C | snv | 8.1E-06; 0.46 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.701 | 0.280 | 1 | 155216951 | non coding transcript exon variant | G/A;T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.080 | 19 | 48715345 | synonymous variant | C/T | snv | 0.46 | 0.40 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.653 | 0.480 | 11 | 69648142 | splice region variant | G/A | snv | 0.45 | 0.39 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.752 | 0.080 | 6 | 12292539 | intron variant | G/C;T | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.790 | 0.080 | 6 | 24651092 | intron variant | C/G | snv | 0.42 | 0.46 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 |