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 | 0.160 | 19 | 10162696 | missense variant | T/A;C;G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.200 | 14 | 102251978 | missense variant | A/G | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 4 | 102466262 | downstream gene variant | G/A | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 4 | 102612664 | intron variant | T/A | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.080 | 4 | 102620848 | downstream gene variant | G/T | snv | 4.3E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.732 | 0.200 | 11 | 102718452 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 10 | 103394332 | 5 prime UTR variant | A/G | snv | 0.34 | 0.26 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 12 | 103982915 | missense variant | G/A;C;T | snv | 4.7E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.120 | 2 | 10448012 | intron variant | C/T | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.120 | 7 | 107901762 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.689 | 0.360 | 13 | 109782884 | missense variant | C/G;T | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.851 | 0.080 | 4 | 109913367 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.695 | 0.280 | 11 | 111300984 | intron variant | C/A | snv | 0.71 |
|
0.020 | 1.000 | 2 | 2008 | 2013 | ||||||||
|
0.716 | 0.280 | 5 | 112837567 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | |||||||
|
0.882 | 0.160 | 5 | 112837749 | missense variant | G/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.882 | 0.160 | 5 | 112837812 | missense variant | G/A;C | snv | 4.0E-06; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
0.100 | 0.800 | 10 | 1997 | 2004 | |||||||||
|
0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 |
|
0.100 | 0.800 | 10 | 1997 | 2004 | |||||||
|
0.752 | 0.320 | 5 | 112841059 | missense variant | T/A;G | snv | 0.79 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
0.020 | 1.000 | 2 | 2008 | 2008 | |||||||||
|
0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 9 | 117700861 | upstream gene variant | A/G | snv | 0.22 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.732 | 0.560 | 9 | 117702866 | upstream gene variant | T/C | snv | 0.18 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.020 | 0.500 | 2 | 2011 | 2016 | ||||||||
|
0.882 | 0.080 | 9 | 117717932 | 3 prime UTR variant | C/A | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |