| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.280 | 17 | 37738049 | intron variant | A/G | snv | 0.52 |
|
0.730 | 1.000 | 3 | 2011 | 2018 | ||||||||
|
0.925 | 0.080 | 6 | 21648854 | regulatory region variant | G/A | snv | 0.55 |
|
0.710 | 1.000 | 1 | 2016 | 2018 | ||||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.710 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.710 | 1.000 | 1 | 2015 | 2018 | ||||||||
|
0.776 | 0.280 | 17 | 37741165 | intron variant | C/T | snv | 0.41 |
|
0.710 | 1.000 | 1 | 2011 | 2012 | ||||||||
|
0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 |
|
0.710 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.080 | 0.750 | 8 | 2005 | 2014 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.080 | 0.750 | 8 | 2005 | 2014 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.080 | 0.750 | 8 | 2005 | 2014 | |||||||||
|
0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 |
|
0.050 | 1.000 | 5 | 2004 | 2015 | ||||||||
|
0.653 | 0.440 | 2 | 38070996 | missense variant | T/C;G | snv | 0.15; 4.0E-06 |
|
0.050 | 1.000 | 5 | 2004 | 2015 | ||||||||
|
0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 |
|
0.050 | 0.800 | 5 | 2004 | 2015 | |||||||
|
0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 |
|
0.040 | 1.000 | 4 | 2014 | 2018 | ||||||||
|
0.716 | 0.280 | 2 | 38075247 | missense variant | G/C | snv | 0.31 | 0.36 |
|
0.030 | 1.000 | 3 | 2010 | 2015 | |||||||
|
0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 |
|
0.030 | < 0.001 | 3 | 2007 | 2012 | |||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.030 | 1.000 | 3 | 2012 | 2014 | ||||||||
|
0.763 | 0.160 | 17 | 42554888 | missense variant | G/A;C;T | snv | 0.56; 9.0E-05; 1.4E-05 |
|
0.030 | 1.000 | 3 | 2004 | 2015 | ||||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.020 | 0.500 | 2 | 2011 | 2012 | |||||||
|
0.683 | 0.400 | 2 | 38075034 | missense variant | C/A | snv | 0.32 | 0.35 |
|
0.020 | 0.500 | 2 | 2011 | 2015 | |||||||
|
0.882 | 0.080 | 10 | 121488063 | missense variant | A/T | snv |
|
0.020 | 1.000 | 2 | 2011 | 2013 | |||||||||
|
0.925 | 0.080 | 11 | 101034325 | 3 prime UTR variant | C/A;T | snv |
|
0.020 | 1.000 | 2 | 2009 | 2011 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2009 | 2013 | ||||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 0.500 | 2 | 2007 | 2015 | |||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.020 | 1.000 | 2 | 2009 | 2013 |