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 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.649 | 0.280 | 10 | 88989499 | intron variant | G/A;T | snv | 0.15 |
|
0.020 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
1.000 | 0.040 | 2 | 157761077 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||||
|
0.742 | 0.240 | 2 | 54200842 | intron variant | A/T | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
2 | 9527876 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
8 | 38996229 | missense variant | T/C | snv | 8.0E-06 |
|
0.010 | < 0.001 | 1 | 2002 | 2002 | ||||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.050 | 1.000 | 5 | 2008 | 2015 | ||||||||
|
0.724 | 0.240 | 4 | 99339632 | missense variant | T/A;C | snv | 0.35 |
|
0.020 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
0.807 | 0.240 | 4 | 99342808 | missense variant | C/T | snv | 0.34 | 0.31 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
4 | 99134711 | intron variant | A/G | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.827 | 0.160 | 4 | 99428512 | missense variant | C/G | snv | 8.5E-02; 4.9E-04 | 7.8E-02 |
|
0.020 | 1.000 | 2 | 2008 | 2009 | |||||||
|
4 | 99428309 | intron variant | T/C | snv | 1.0E-02 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv |
|
0.040 | 0.500 | 4 | 2013 | 2017 | |||||||||
|
0.732 | 0.400 | 3 | 186849088 | intron variant | G/A | snv | 0.81 |
|
0.030 | 0.667 | 3 | 2013 | 2015 | ||||||||
|
0.776 | 0.240 | 3 | 186849018 | intron variant | C/A;G | snv |
|
0.020 | 0.500 | 2 | 2013 | 2013 | |||||||||
|
3 | 186843845 | intron variant | G/A | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv |
|
0.050 | 0.800 | 5 | 2013 | 2015 | |||||||||
|
0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 |
|
0.030 | 1.000 | 3 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 3 | 186856394 | 3 prime UTR variant | T/C | snv | 0.55 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.776 | 0.120 | 1 | 202945228 | intron variant | T/C | snv | 0.53 |
|
0.020 | 1.000 | 2 | 2014 | 2015 | ||||||||
|
0.776 | 0.120 | 1 | 202952912 | intron variant | C/T | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.200 | 1 | 202940846 | 3 prime UTR variant | G/C | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 12 | 1787790 | 3 prime UTR variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.160 | 12 | 1747816 | intron variant | T/C | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
2 | 96115056 | missense variant | C/A;T | snv | 8.1E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |