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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.662 | 0.440 | 16 | 52552429 | non coding transcript exon variant | A/G | snv | 0.63 |
|
0.900 | 0.953 | 33 | 2007 | 2019 | ||||||||
|
0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 |
|
0.900 | 1.000 | 24 | 2009 | 2019 | ||||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.900 | 0.895 | 17 | 2003 | 2017 | ||||||||
|
0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 |
|
0.850 | 0.875 | 5 | 2010 | 2016 | |||||||
|
0.807 | 0.120 | 14 | 68232877 | intron variant | C/T | snv | 0.13 |
|
0.830 | 1.000 | 3 | 2012 | 2019 | ||||||||
|
0.807 | 0.160 | 14 | 68193711 | intron variant | T/C | snv | 0.80 |
|
0.820 | 1.000 | 2 | 2012 | 2017 | ||||||||
|
0.925 | 0.080 | 1 | 204546897 | intron variant | A/G | snv | 0.65 | 0.57 |
|
0.810 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 |
|
0.800 | 0.972 | 34 | 2007 | 2019 | ||||||||
|
0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 21 | 2007 | 2018 | |||||||||
|
0.732 | 0.360 | 5 | 56736057 | regulatory region variant | C/A | snv | 0.69 |
|
0.800 | 0.958 | 19 | 2007 | 2017 | ||||||||
|
0.716 | 0.360 | 8 | 127343372 | intron variant | A/G | snv | 0.43 |
|
0.800 | 0.864 | 18 | 2007 | 2017 | ||||||||
|
0.763 | 0.120 | 5 | 44706396 | intergenic variant | A/G | snv | 0.25 |
|
0.800 | 1.000 | 16 | 2008 | 2017 | ||||||||
|
0.732 | 0.280 | 2 | 217041109 | intergenic variant | A/G | snv | 0.44 |
|
0.800 | 1.000 | 16 | 2007 | 2016 | ||||||||
|
0.790 | 0.280 | 11 | 1887776 | intron variant | T/C | snv | 0.26 |
|
0.800 | 0.938 | 12 | 2007 | 2017 | ||||||||
|
0.807 | 0.120 | 3 | 27374522 | 3 prime UTR variant | C/T | snv | 0.44 |
|
0.800 | 1.000 | 11 | 2009 | 2019 | ||||||||
|
0.925 | 0.080 | 10 | 121580797 | intron variant | C/A;T | snv |
|
0.790 | 0.909 | 9 | 2009 | 2018 | |||||||||
|
0.827 | 0.080 | 5 | 44662413 | upstream gene variant | C/T | snv | 0.49 |
|
0.790 | 1.000 | 9 | 2008 | 2018 | ||||||||
|
0.882 | 0.080 | 10 | 62518923 | intron variant | G/A | snv | 0.16 |
|
0.770 | 1.000 | 7 | 2010 | 2017 | ||||||||
|
0.827 | 0.160 | 1 | 121538815 | intron variant | A/C;G | snv |
|
0.770 | 0.818 | 7 | 2009 | 2017 | |||||||||
|
0.851 | 0.160 | 10 | 121591810 | intron variant | T/C | snv | 0.56 |
|
0.770 | 1.000 | 7 | 2009 | 2017 | ||||||||
|
0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 |
|
0.770 | 1.000 | 7 | 2005 | 2019 | ||||||||
|
0.807 | 0.160 | 16 | 52565276 | intron variant | C/T | snv | 0.20 |
|
0.770 | 1.000 | 7 | 2010 | 2020 | ||||||||
|
0.807 | 0.120 | 17 | 54979110 | intron variant | G/A | snv | 0.29 |
|
0.770 | 0.900 | 7 | 2009 | 2017 | ||||||||
|
0.776 | 0.200 | 14 | 68567965 | intron variant | C/T | snv | 0.16 |
|
0.770 | 0.909 | 7 | 2009 | 2017 | ||||||||
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.750 | 1.000 | 5 | 2011 | 2019 |