| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.020 | 1.000 | 2 | 2006 | 2019 | ||||||||
|
0.742 | 0.320 | 12 | 80935757 | non coding transcript exon variant | A/C;T | snv | 0.83 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.040 | 0.750 | 4 | 2011 | 2014 | |||||||
|
0.653 | 0.600 | 16 | 88646828 | missense variant | A/G;T | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.030 | 0.667 | 3 | 2004 | 2011 | |||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.080 | 1.000 | 8 | 2008 | 2016 | ||||||||
|
0.882 | 0.200 | 1 | 109740350 | 5 prime UTR variant | G/T | snv | 0.64 | 0.66 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.200 | 5 | 112827157 | stop gained | T/C;G | snv | 0.58 | 0.47 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.160 | 2 | 85394936 | missense variant | T/A;C | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
11 | 6319476 | missense variant | A/G | snv | 4.2E-06; 0.55 | 0.51 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
0.776 | 0.360 | 1 | 7853370 | missense variant | G/A | snv | 0.51 | 0.52 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.020 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.695 | 0.320 | 17 | 30117165 | 5 prime UTR variant | A/C;T | snv | 0.50; 3.1E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.790 | 0.080 | 2 | 47403411 | intron variant | C/A;G;T | snv | 1.9E-05; 0.47 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 |
|
0.040 | 1.000 | 4 | 2007 | 2017 | |||||||
|
0.672 | 0.320 | 8 | 142680513 | 5 prime UTR variant | C/T | snv | 0.46 | 0.45 |
|
0.040 | 1.000 | 4 | 2010 | 2015 | |||||||
|
0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.653 | 0.480 | 11 | 69648142 | splice region variant | G/A | snv | 0.45 | 0.39 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.240 | 17 | 5521757 | missense variant | T/C | snv | 0.45 | 0.47 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |