| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 2 | 100824202 | intron variant | T/A | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.320 | 2 | 100843581 | intron variant | T/C | snv | 8.3E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.120 | 2 | 100889540 | intron variant | T/C | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 2 | 100895497 | intron variant | T/C | snv | 0.77 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 2 | 100935633 | intron variant | T/C | snv | 0.84 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.689 | 0.320 | 2 | 100961475 | intron variant | G/A | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.320 | 2 | 100964784 | intron variant | C/T | snv | 0.92 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 2 | 101008009 | missense variant | T/C | snv | 0.61 | 0.61 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.120 | 3 | 10141653 | 5 prime UTR variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 12 | 102363335 | non coding transcript exon variant | A/G;T | snv |
|
0.020 | 1.000 | 2 | 2010 | 2014 | |||||||||
|
0.732 | 0.440 | 12 | 102399855 | 3 prime UTR variant | A/G | snv | 2.1E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.752 | 0.440 | 12 | 102481086 | intron variant | A/G | snv | 5.6E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.763 | 0.360 | 12 | 102481791 | upstream gene variant | A/C;G;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2015 | |||||||||
|
0.851 | 0.120 | 12 | 102497908 | regulatory region variant | T/A;C | snv |
|
0.030 | 1.000 | 3 | 2006 | 2015 | |||||||||
|
0.925 | 0.080 | 12 | 102497974 | regulatory region variant | A/G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.080 | 11 | 102519261 | downstream gene variant | A/G | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv |
|
0.720 | 0.667 | 3 | 2013 | 2018 | |||||||||
|
0.925 | 0.080 | 10 | 102654464 | non coding transcript exon variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 19 | 10271151 | 5 prime UTR variant | A/C | snv | 1.6E-02 | 6.7E-02 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 10 | 102821531 | intron variant | A/C | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.672 | 0.360 | 10 | 102837395 | 5 prime UTR variant | A/G;T | snv | 0.40; 8.1E-06 |
|
0.050 | 0.800 | 5 | 2007 | 2015 | ||||||||
|
0.742 | 0.160 | 10 | 102837723 | upstream gene variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.160 | 10 | 102837961 | upstream gene variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 |