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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.200 | X | 67711621 | missense variant | T/A | snv |
|
0.830 | 1.000 | 0 | 2002 | 2010 | |||||||||
|
0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv |
|
0.800 | 0.917 | 8 | 2007 | 2018 | |||||||||
|
1.000 | 0.080 | 10 | 110280017 | missense variant | A/C | snv |
|
0.800 | 1.000 | 5 | 2008 | 2015 | |||||||||
|
0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 |
|
0.800 | 0.857 | 5 | 2007 | 2017 | ||||||||
|
0.763 | 0.280 | 10 | 46046326 | 5 prime UTR variant | A/G | snv | 0.54 |
|
0.800 | 1.000 | 4 | 2008 | 2019 | ||||||||
|
0.724 | 0.480 | 8 | 127112671 | intron variant | C/A | snv | 0.16 |
|
0.800 | 0.950 | 3 | 2007 | 2018 | ||||||||
|
0.790 | 0.280 | 17 | 37738049 | intron variant | A/G | snv | 0.52 |
|
0.800 | 1.000 | 2 | 2008 | 2018 | ||||||||
|
0.827 | 0.160 | 19 | 50861367 | upstream gene variant | A/C;G | snv |
|
0.800 | 0.923 | 1 | 2008 | 2019 | |||||||||
|
0.827 | 0.240 | X | 67722976 | missense variant | G/A;T | snv |
|
0.800 | 0 | ||||||||||||
|
0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv |
|
0.800 | 1.000 | 0 | 2002 | 2015 | |||||||||
|
0.701 | 0.240 | 17 | 48728343 | missense variant | C/T | snv | 1.8E-03 | 1.6E-03 |
|
0.800 | 0.935 | 0 | 2012 | 2019 | |||||||
|
0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 |
|
0.780 | 0.900 | 4 | 2005 | 2017 | |||||||
|
0.925 | 0.080 | 8 | 127094635 | intron variant | A/C | snv | 0.17 |
|
0.780 | 1.000 | 1 | 2008 | 2017 | ||||||||
|
0.882 | 0.160 | 17 | 71112612 | intron variant | G/T | snv | 0.56 |
|
0.770 | 0.900 | 3 | 2008 | 2016 | ||||||||
|
0.882 | 0.080 | 6 | 116888889 | intron variant | T/C | snv | 0.28 |
|
0.760 | 0.857 | 1 | 2010 | 2016 | ||||||||
|
0.925 | 0.080 | 19 | 50858501 | missense variant | T/C | snv | 5.5E-02 | 4.9E-02 |
|
0.750 | 0.667 | 1 | 2011 | 2015 | |||||||
|
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 | ||||||||
|
0.882 | 0.080 | 5 | 1895715 | intron variant | C/T | snv | 0.43 |
|
0.740 | 1.000 | 3 | 2010 | 2013 | ||||||||
|
0.827 | 0.160 | X | 67717484 | missense variant | G/A;C;T | snv | 2.2E-05; 1.1E-05; 9.1E-04 |
|
0.740 | 1.000 | 0 | 2000 | 2004 | ||||||||
|
0.925 | 0.080 | 8 | 127098007 | intron variant | A/G | snv | 0.13 |
|
0.730 | 1.000 | 2 | 2008 | 2016 | ||||||||
|
0.882 | 0.160 | X | 51486831 | downstream gene variant | A/G | snv |
|
0.730 | 1.000 | 2 | 2008 | 2010 | |||||||||
|
0.827 | 0.200 | 19 | 54293995 | downstream gene variant | T/C | snv | 0.82 |
|
0.730 | 1.000 | 1 | 2012 | 2014 | ||||||||
|
0.925 | 0.080 | 8 | 127323428 | intron variant | G/A | snv | 0.36 |
|
0.730 | 0.750 | 1 | 2008 | 2017 | ||||||||
|
0.790 | 0.200 | 8 | 127091692 | non coding transcript exon variant | T/A;C | snv |
|
0.720 | 1.000 | 4 | 2010 | 2014 |