| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.280 | 10 | 46046326 | 5 prime UTR variant | A/G | snv | 0.54 |
|
0.800 | 1.000 | 30 | 2008 | 2019 | ||||||||
|
1.000 | 0.080 | 10 | 46057646 | regulatory region variant | A/G | snv | 0.45 |
|
0.700 | 1.000 | 2 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 12 | 4372398 | intron variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.080 | 12 | 114656455 | downstream gene variant | A/G | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 17 | 58297122 | downstream gene variant | A/G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.200 | 4 | 38774486 | missense variant | T/C;G | snv | 4.3E-06; 0.41 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.790 | 0.160 | 4 | 38774870 | missense variant | T/G | snv | 0.42 | 0.41 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 1 | 109757069 | missense variant | G/A | snv | 9.4E-02 | 0.16 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.851 | 0.120 | 4 | 55349464 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.080 | 8 | 23633678 | downstream gene variant | G/A | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 8 | 26034626 | intron variant | C/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 5 | 75587055 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 12 | 47936846 | intron variant | G/A | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 10 | 121273005 | intergenic variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.160 | 11 | 69211113 | regulatory region variant | G/A | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 13 | 62947758 | intergenic variant | G/A | snv | 9.2E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.160 | 5 | 53051539 | synonymous variant | C/T | snv | 0.39 | 0.36 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.827 | 0.160 | 4 | 73743328 | 3 prime UTR variant | A/T | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 17 | 82101611 | 3 prime UTR variant | C/T | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.030 | 1.000 | 3 | 2014 | 2016 | ||||||||
|
0.724 | 0.440 | 15 | 81309441 | 3 prime UTR variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.080 | 1 | 236898549 | 3 prime UTR variant | G/A | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.060 | 0.667 | 6 | 2007 | 2016 | |||||||||
|
1.000 | 0.080 | 5 | 140807616 | synonymous variant | G/A;C;T | snv | 4.0E-06; 4.4E-03; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2004 | 2004 |