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 | 43 | 2007 | 2019 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.833 | 42 | 2003 | 2018 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.100 | 0.833 | 42 | 2003 | 2018 | |||||||||
|
0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 |
|
0.800 | 0.972 | 36 | 2007 | 2019 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 0.813 | 32 | 2004 | 2019 | |||||||||
|
0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 |
|
0.900 | 1.000 | 28 | 2009 | 2019 | ||||||||
|
0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 25 | 2007 | 2018 | |||||||||
|
0.732 | 0.360 | 5 | 56736057 | regulatory region variant | C/A | snv | 0.69 |
|
0.800 | 0.958 | 24 | 2007 | 2017 | ||||||||
|
0.716 | 0.360 | 8 | 127343372 | intron variant | A/G | snv | 0.43 |
|
0.800 | 0.864 | 22 | 2007 | 2017 | ||||||||
|
0.732 | 0.280 | 2 | 217041109 | intergenic variant | A/G | snv | 0.44 |
|
0.800 | 1.000 | 21 | 2007 | 2016 | ||||||||
|
0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 |
|
0.100 | 0.632 | 19 | 2002 | 2019 | ||||||||
|
0.763 | 0.120 | 5 | 44706396 | intergenic variant | A/G | snv | 0.25 |
|
0.800 | 1.000 | 19 | 2008 | 2017 | ||||||||
|
0.807 | 0.120 | 3 | 27374522 | 3 prime UTR variant | C/T | snv | 0.44 |
|
0.800 | 1.000 | 17 | 2009 | 2019 | ||||||||
|
0.790 | 0.280 | 11 | 1887776 | intron variant | T/C | snv | 0.26 |
|
0.800 | 0.938 | 16 | 2007 | 2017 | ||||||||
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.750 | 1.000 | 11 | 2011 | 2019 | ||||||||
|
0.882 | 0.080 | 10 | 62518923 | intron variant | G/A | snv | 0.16 |
|
0.770 | 1.000 | 11 | 2010 | 2017 | ||||||||
|
0.827 | 0.160 | 1 | 121538815 | intron variant | A/C;G | snv |
|
0.770 | 0.818 | 11 | 2009 | 2017 | |||||||||
|
0.925 | 0.080 | 10 | 121580797 | intron variant | C/A;T | snv |
|
0.790 | 0.909 | 11 | 2009 | 2018 | |||||||||
|
0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv |
|
0.100 | 0.818 | 11 | 2004 | 2015 | |||||||||
|
0.776 | 0.200 | 14 | 68567965 | intron variant | C/T | snv | 0.16 |
|
0.770 | 0.909 | 11 | 2009 | 2017 | ||||||||
|
0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 |
|
0.100 | 1.000 | 10 | 2007 | 2020 | ||||||||
|
0.827 | 0.080 | 5 | 44662413 | upstream gene variant | C/T | snv | 0.49 |
|
0.790 | 1.000 | 10 | 2008 | 2018 | ||||||||
|
0.807 | 0.160 | 16 | 52565276 | intron variant | C/T | snv | 0.20 |
|
0.770 | 1.000 | 10 | 2010 | 2020 | ||||||||
|
0.807 | 0.120 | 17 | 54979110 | intron variant | G/A | snv | 0.29 |
|
0.770 | 0.900 | 10 | 2009 | 2017 | ||||||||
|
0.827 | 0.080 | 12 | 28002147 | intergenic variant | A/G | snv | 8.9E-02 |
|
0.750 | 1.000 | 9 | 2012 | 2016 |