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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.120 | 12 | 102475722 | synonymous variant | C/T | snv | 1.2E-05 | 4.9E-05 |
|
0.100 | 1.000 | 11 | 2007 | 2018 | |||||||
|
0.763 | 0.360 | 12 | 102481791 | upstream gene variant | A/C;G;T | snv |
|
0.050 | 0.800 | 5 | 2012 | 2018 | |||||||||
|
0.763 | 0.360 | 12 | 102481791 | upstream gene variant | A/C;G;T | snv |
|
0.040 | 1.000 | 4 | 2015 | 2018 | |||||||||
|
0.672 | 0.400 | 12 | 102399791 | 3 prime UTR variant | C/T | snv | 0.45 |
|
0.040 | 0.500 | 4 | 2011 | 2017 | ||||||||
|
0.672 | 0.400 | 12 | 102399791 | 3 prime UTR variant | C/T | snv | 0.45 |
|
0.030 | 1.000 | 3 | 2010 | 2014 | ||||||||
|
0.925 | 0.080 | 12 | 102400737 | 3 prime UTR variant | G/A | snv | 0.67 |
|
0.030 | 0.667 | 3 | 2011 | 2018 | ||||||||
|
0.925 | 0.080 | 12 | 102400737 | 3 prime UTR variant | G/A | snv | 0.67 |
|
0.030 | 0.667 | 3 | 2011 | 2018 | ||||||||
|
0.925 | 0.200 | 12 | 102478498 | missense variant | T/C | snv | 4.1E-06 |
|
0.030 | 1.000 | 3 | 2012 | 2015 | ||||||||
|
0.763 | 0.360 | 12 | 102481791 | upstream gene variant | A/C;G;T | snv |
|
0.020 | 1.000 | 2 | 2010 | 2018 | |||||||||
|
0.763 | 0.360 | 12 | 102481791 | upstream gene variant | A/C;G;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2015 | |||||||||
|
0.763 | 0.360 | 12 | 102481791 | upstream gene variant | A/C;G;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2015 | |||||||||
|
0.752 | 0.440 | 12 | 102481086 | intron variant | A/G | snv | 5.6E-02 |
|
0.020 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.672 | 0.400 | 12 | 102399791 | 3 prime UTR variant | C/T | snv | 0.45 |
|
0.020 | 1.000 | 2 | 2011 | 2016 | ||||||||
|
0.925 | 0.080 | 12 | 102400737 | 3 prime UTR variant | G/A | snv | 0.67 |
|
0.020 | 1.000 | 2 | 2013 | 2018 | ||||||||
|
0.925 | 0.080 | 12 | 102400737 | 3 prime UTR variant | G/A | snv | 0.67 |
|
0.020 | 1.000 | 2 | 2013 | 2018 | ||||||||
|
0.882 | 0.160 | 12 | 102444737 | intron variant | C/T | snv | 0.66 |
|
0.020 | 0.500 | 2 | 2011 | 2017 | ||||||||
|
0.882 | 0.160 | 12 | 102444737 | intron variant | C/T | snv | 0.66 |
|
0.020 | 0.500 | 2 | 2011 | 2017 | ||||||||
|
0.925 | 0.080 | 12 | 102475786 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.925 | 0.080 | 12 | 102475786 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.925 | 0.080 | 12 | 102475786 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.925 | 0.040 | 12 | 102465050 | intron variant | G/C | snv | 2.8E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 12 | 102465050 | intron variant | G/C | snv | 2.8E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 12 | 102465050 | intron variant | G/C | snv | 2.8E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 12 | 102465050 | intron variant | G/C | snv | 2.8E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 12 | 102465050 | intron variant | G/C | snv | 2.8E-02 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 |