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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.100 | 0.833 | 48 | 2003 | 2020 | ||||||||
|
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 | |||||||||
|
0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 |
|
0.100 | 0.895 | 38 | 2000 | 2018 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 0.813 | 32 | 2004 | 2019 | |||||||||
|
0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 |
|
0.100 | 0.727 | 22 | 2003 | 2019 | ||||||||
|
0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 21 | 2007 | 2018 | |||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.100 | 0.950 | 20 | 2007 | 2019 | ||||||||
|
0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 |
|
0.100 | 0.800 | 20 | 2004 | 2018 | ||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.100 | 0.842 | 19 | 2004 | 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 | ||||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.900 | 0.895 | 17 | 2003 | 2017 | ||||||||
|
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 | ||||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
0.100 | 0.733 | 15 | 2007 | 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 | ||||||||
|
0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv |
|
0.100 | 0.818 | 11 | 2004 | 2015 | |||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.100 | 0.800 | 10 | 2009 | 2019 | ||||||||
|
0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 |
|
0.090 | 0.889 | 9 | 2004 | 2018 | ||||||||
|
0.925 | 0.080 | 10 | 121580797 | intron variant | C/A;T | snv |
|
0.790 | 0.909 | 9 | 2009 | 2018 | |||||||||
|
0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 |
|
0.090 | 0.667 | 9 | 2002 | 2014 | ||||||||
|
0.672 | 0.360 | 10 | 102837395 | 5 prime UTR variant | A/G;T | snv | 0.40; 8.1E-06 |
|
0.090 | 0.889 | 9 | 2008 | 2018 | ||||||||
|
0.776 | 0.160 | 2 | 214752454 | missense variant | C/G;T | snv | 1.5E-02 |
|
0.080 | 0.500 | 8 | 2006 | 2012 | ||||||||
|
0.882 | 0.080 | 6 | 151944320 | missense variant | A/G | snv |
|
0.080 | 1.000 | 8 | 2004 | 2010 | |||||||||
|
0.827 | 0.160 | 1 | 121538815 | intron variant | A/C;G | snv |
|
0.770 | 0.818 | 7 | 2009 | 2017 |