| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.280 | 2 | 112774506 | 3 prime UTR variant | A/G | snv | 0.26 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 2 | 113063095 | 3 prime UTR variant | A/G | snv | 0.65 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 2 | 102178143 | 3 prime UTR variant | A/G | snv | 0.12 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 1 | 226402338 | missense variant | G/A;C | snv | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.807 | 0.120 | 15 | 78617197 | intron variant | G/T | snv | 0.61 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 2 | 102396972 | 3 prime UTR variant | C/A | snv | 3.7E-02 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 7 | 19943391 | non coding transcript exon variant | T/C;G | snv |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.827 | 0.120 | 1 | 24964519 | missense variant | A/T | snv | 0.56 | 0.50 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
0.790 | 0.120 | 15 | 78571130 | intron variant | T/C | snv | 0.28 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.776 | 0.160 | 1 | 67165579 | intron variant | C/T | snv | 0.47 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||
|
0.851 | 0.120 | 14 | 77326894 | missense variant | G/A | snv | 7.0E-02 | 7.0E-02 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 2 | 113063623 | 3 prime UTR variant | T/C | snv | 0.65 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 8 | 142684467 | upstream gene variant | G/A | snv | 0.23 |
|
0.020 | 0.500 | 2 | 2012 | 2013 | ||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.020 | 0.500 | 2 | 2012 | 2016 | ||||||||
|
0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 |
|
0.020 | 0.500 | 2 | 2014 | 2016 | |||||||
|
0.658 | 0.480 | 17 | 27769571 | missense variant | G/A | snv | 0.18 | 0.17 |
|
0.020 | 0.500 | 2 | 2010 | 2018 | |||||||
|
0.851 | 0.120 | 12 | 112452972 | intron variant | A/G | snv | 0.21 |
|
0.020 | 0.500 | 2 | 2009 | 2016 | ||||||||
|
0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 |
|
0.020 | 0.500 | 2 | 2010 | 2013 | |||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
0.060 | 0.667 | 6 | 2002 | 2016 | ||||||||
|
0.695 | 0.320 | 13 | 102852167 | synonymous variant | T/C | snv | 0.52 | 0.59 |
|
0.030 | 0.667 | 3 | 2009 | 2017 | |||||||
|
0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 |
|
0.030 | 0.667 | 3 | 2011 | 2017 | ||||||||
|
0.827 | 0.120 | 3 | 114643917 | intron variant | C/G;T | snv |
|
0.720 | 0.667 | 2 | 2011 | 2016 | |||||||||
|
0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 |
|
0.100 | 0.700 | 10 | 2010 | 2017 |