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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 1 | 200048258 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.776 | 0.280 | 1 | 155187519 | missense variant | C/T | snv |
|
0.020 | 1.000 | 2 | 2012 | 2015 | |||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.030 | 0.667 | 3 | 2010 | 2011 | ||||||||
|
0.732 | 0.280 | 2 | 47783349 | missense variant | G/A;C;T | snv | 0.18; 8.6E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.763 | 0.200 | 9 | 21971058 | missense variant | C/A;G;T | snv | 8.5E-06; 4.3E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 11 | 1759567 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | |||||||
|
0.708 | 0.320 | 15 | 60997989 | intron variant | C/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.776 | 0.280 | 17 | 42314074 | 3 prime UTR variant | G/A | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.360 | 17 | 42313892 | 3 prime UTR variant | T/C | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.763 | 0.240 | 2 | 177234231 | missense variant | T/C | snv |
|
0.020 | 1.000 | 2 | 2011 | 2018 | |||||||||
|
0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 10 | 80270029 | downstream gene variant | T/C | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.280 | 11 | 47255124 | intron variant | A/G | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 19 | 11017920 | intron variant | A/G | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.742 | 0.120 | 7 | 142751938 | missense variant | G/A | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.776 | 0.320 | 5 | 147828053 | missense variant | G/A;C | snv | 4.5E-03 |
|
0.020 | 1.000 | 2 | 2005 | 2006 | ||||||||
|
0.724 | 0.400 | 3 | 122119472 | missense variant | G/A | snv | 0.30 | 0.25 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 0.500 | 2 | 2011 | 2011 |