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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 |
|
0.020 | < 0.001 | 2 | 2005 | 2011 | |||||||
|
1.000 | 0.040 | 12 | 106111556 | intron variant | T/G | snv | 0.28 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.742 | 0.360 | 8 | 6877877 | 5 prime UTR variant | C/T | snv | 0.43 | 0.40 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.658 | 0.640 | 9 | 117707776 | intron variant | A/G | snv | 0.62 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | |||||||
|
0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.440 | 1 | 247435768 | intron variant | T/C | snv | 0.65 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
0.716 | 0.400 | 11 | 102865911 | missense variant | T/C;G | snv | 7.1E-02; 2.5E-04 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||
|
0.807 | 0.120 | 5 | 139374887 | intron variant | G/C;T | snv |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||||
|
0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.732 | 0.440 | 1 | 161674008 | missense variant | T/C | snv | 0.16 | 0.19 |
|
0.020 | 0.500 | 2 | 2016 | 2019 | |||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.020 | 0.500 | 2 | 2015 | 2019 | ||||||||
|
0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 |
|
0.020 | 0.500 | 2 | 2007 | 2007 | |||||||
|
0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 |
|
0.040 | 0.750 | 4 | 2016 | 2019 | |||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.040 | 0.750 | 4 | 2007 | 2016 | ||||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.030 | 1.000 | 3 | 2014 | 2019 | ||||||||
|
0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | |||||||
|
0.716 | 0.360 | 6 | 52187772 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2012 | 2015 | |||||||
|
0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 |
|
0.020 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 |
|
0.020 | 1.000 | 2 | 2018 | 2019 |