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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.701 | 0.240 | 17 | 48728343 | missense variant | C/T | snv | 1.8E-03 | 1.6E-03 |
|
0.800 | 0.938 | 31 | 2012 | 2019 | |||||||
|
0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv |
|
0.800 | 0.914 | 28 | 2007 | 2019 | |||||||||
|
0.763 | 0.280 | 10 | 46046326 | 5 prime UTR variant | A/G | snv | 0.54 |
|
0.800 | 1.000 | 26 | 2008 | 2020 | ||||||||
|
0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 |
|
0.800 | 0.871 | 24 | 2007 | 2019 | ||||||||
|
0.724 | 0.480 | 8 | 127112671 | intron variant | C/A | snv | 0.16 |
|
0.800 | 0.955 | 17 | 2007 | 2019 | ||||||||
|
0.790 | 0.280 | 17 | 37738049 | intron variant | A/G | snv | 0.52 |
|
0.800 | 1.000 | 16 | 2007 | 2019 | ||||||||
|
0.827 | 0.160 | 19 | 50861367 | upstream gene variant | A/C;G | snv |
|
0.800 | 0.938 | 12 | 2008 | 2019 | |||||||||
|
0.925 | 0.080 | 8 | 127094635 | intron variant | A/C | snv | 0.17 |
|
0.780 | 1.000 | 8 | 2008 | 2017 | ||||||||
|
0.882 | 0.160 | 17 | 71112612 | intron variant | G/T | snv | 0.56 |
|
0.770 | 0.923 | 7 | 2007 | 2018 | ||||||||
|
0.882 | 0.080 | 6 | 116888889 | intron variant | T/C | snv | 0.28 |
|
0.760 | 0.900 | 6 | 2010 | 2019 | ||||||||
|
0.851 | 0.120 | 7 | 27936944 | intron variant | G/A | snv | 0.28 |
|
0.750 | 0.857 | 5 | 2010 | 2018 | ||||||||
|
0.925 | 0.080 | 19 | 50858501 | missense variant | T/C | snv | 5.5E-02 | 4.9E-02 |
|
0.750 | 0.714 | 5 | 2011 | 2015 | |||||||
|
0.882 | 0.080 | 5 | 1895715 | intron variant | C/T | snv | 0.43 |
|
0.740 | 1.000 | 4 | 2010 | 2019 | ||||||||
|
0.763 | 0.240 | 8 | 127505328 | intergenic variant | A/G;T | snv |
|
0.740 | 1.000 | 4 | 2008 | 2015 | |||||||||
|
0.776 | 0.280 | 17 | 37741165 | intron variant | C/T | snv | 0.41 |
|
0.740 | 1.000 | 4 | 2008 | 2018 | ||||||||
|
0.827 | 0.200 | 19 | 54293995 | downstream gene variant | T/C | snv | 0.82 |
|
0.730 | 1.000 | 3 | 2012 | 2014 | ||||||||
|
0.925 | 0.080 | 17 | 37714971 | intron variant | A/G | snv | 0.85 |
|
0.730 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
0.776 | 0.200 | 11 | 108272729 | missense variant | C/A;G | snv | 1.7E-02 |
|
0.730 | 0.750 | 3 | 2004 | 2018 | ||||||||
|
0.695 | 0.320 | 12 | 12718165 | missense variant | T/A;C;G | snv | 1.6E-04; 1.6E-05; 0.26 |
|
0.730 | 0.750 | 3 | 2004 | 2019 | ||||||||
|
0.882 | 0.160 | X | 51486831 | downstream gene variant | A/G | snv |
|
0.730 | 1.000 | 3 | 2008 | 2010 | |||||||||
|
0.827 | 0.200 | 11 | 69227200 | intergenic variant | A/G | snv | 0.53 |
|
0.720 | 1.000 | 2 | 2008 | 2015 | ||||||||
|
0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv |
|
0.720 | 0.750 | 2 | 2013 | 2018 | |||||||||
|
0.925 | 0.080 | 19 | 41479679 | non coding transcript exon variant | G/A | snv | 0.42 |
|
0.720 | 0.667 | 2 | 2013 | 2018 | ||||||||
|
0.925 | 0.080 | 8 | 127519444 | intergenic variant | A/G;T | snv |
|
0.720 | 1.000 | 2 | 2009 | 2015 | |||||||||
|
0.807 | 0.160 | 8 | 127092098 | non coding transcript exon variant | C/A;T | snv |
|
0.720 | 0.667 | 2 | 2008 | 2012 |