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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 1 | 223712706 | missense variant | C/G | snv | 1.00 | 0.99 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.732 | 0.280 | 3 | 122284985 | missense variant | G/C | snv | 0.95 | 0.92 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.827 | 0.120 | 17 | 65537671 | synonymous variant | T/C | snv | 0.90 | 0.90 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.160 | 17 | 746695 | missense variant | G/C;T | snv | 0.85 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.701 | 0.440 | 14 | 61747130 | 3 prime UTR variant | T/C | snv | 0.84 | 0.80 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.080 | 16 | 16068162 | synonymous variant | T/C | snv | 0.79 | 0.84 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 |
|
0.720 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
0.851 | 0.120 | 1 | 119514623 | missense variant | C/A | snv | 0.75 |
|
0.020 | 1.000 | 2 | 2002 | 2007 | ||||||||
|
0.925 | 0.080 | 19 | 50860142 | 3 prime UTR variant | C/T | snv | 0.75 | 0.74 |
|
0.720 | 1.000 | 2 | 2008 | 2018 | |||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.090 | 0.778 | 9 | 2006 | 2014 | ||||||||
|
0.925 | 0.080 | 20 | 63694757 | missense variant | A/C | snv | 0.75 | 0.81 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.763 | 0.360 | 11 | 117998955 | missense variant | A/G | snv | 0.74 | 0.74 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 11 | 35204608 | missense variant | A/G;T | snv | 0.74 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.120 | 9 | 84002350 | missense variant | A/G;T | snv | 0.73 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 8 | 23682904 | 5 prime UTR variant | C/T | snv | 0.72 | 0.72 |
|
0.020 | 1.000 | 2 | 2010 | 2014 | |||||||
|
0.851 | 0.160 | 6 | 116809541 | missense variant | G/A | snv | 0.72 | 0.74 |
|
0.020 | 1.000 | 2 | 2013 | 2016 | |||||||
|
0.851 | 0.160 | 12 | 112919637 | missense variant | G/A | snv | 0.71 | 0.75 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.050 | 0.600 | 5 | 2010 | 2018 | |||||||
|
0.851 | 0.160 | 5 | 33998778 | missense variant | A/C;G | snv | 1.6E-05; 0.70 |
|
0.020 | 1.000 | 2 | 2011 | 2015 | ||||||||
|
0.925 | 0.080 | 19 | 35065377 | intron variant | G/A | snv | 0.70 | 0.63 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.160 | 5 | 33989413 | missense variant | C/T | snv | 0.70 | 0.74 |
|
0.030 | 0.333 | 3 | 2007 | 2015 | |||||||
|
0.851 | 0.120 | 11 | 45856137 | non coding transcript exon variant | C/A;G;T | snv | 8.0E-06; 0.69 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.100 | 0.900 | 10 | 2004 | 2018 | |||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.060 | 0.667 | 6 | 2007 | 2016 | ||||||||
|
0.689 | 0.440 | 2 | 31580636 | missense variant | G/A;C;T | snv | 0.66; 4.9E-06 |
|
0.100 | 0.690 | 29 | 1999 | 2015 |