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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.100 | 0.944 | 18 | 2002 | 2019 | |||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
0.100 | 0.882 | 17 | 2004 | 2019 | ||||||||
|
0.807 | 0.120 | 3 | 27374522 | 3 prime UTR variant | C/T | snv | 0.44 |
|
0.800 | 1.000 | 17 | 2009 | 2019 | ||||||||
|
0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 |
|
0.100 | 0.941 | 17 | 2012 | 2020 | |||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.100 | 1.000 | 16 | 2006 | 2019 | ||||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.100 | 1.000 | 16 | 2009 | 2020 | |||||||
|
0.790 | 0.280 | 11 | 1887776 | intron variant | T/C | snv | 0.26 |
|
0.800 | 0.938 | 16 | 2007 | 2017 | ||||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
0.100 | 0.733 | 15 | 2007 | 2017 | ||||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.100 | 0.867 | 15 | 2007 | 2020 | |||||||
|
0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 |
|
0.100 | 0.786 | 14 | 2003 | 2019 | |||||||
|
0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 |
|
0.100 | 0.929 | 14 | 2009 | 2017 | |||||||
|
0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 |
|
0.100 | 0.923 | 13 | 2000 | 2017 | |||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.100 | 0.769 | 13 | 2003 | 2015 | ||||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.100 | 0.750 | 12 | 2004 | 2018 | ||||||||
|
0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 |
|
0.100 | 0.667 | 12 | 2006 | 2018 | |||||||
|
0.708 | 0.400 | 15 | 51210789 | 3 prime UTR variant | G/A | snv | 0.45 | 0.43 |
|
0.100 | 0.818 | 11 | 2008 | 2018 | |||||||
|
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 | ||||||||
|
0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.22 | 0.30 |
|
0.100 | 0.800 | 10 | 2004 | 2015 | |||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.100 | 0.800 | 10 | 2009 | 2019 | ||||||||
|
0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 |
|
0.100 | 1.000 | 10 | 2007 | 2020 |