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 | 10 | 121580797 | intron variant | C/A;T | snv |
|
0.790 | 0.909 | 9 | 2007 | 2018 | |||||||||
|
0.827 | 0.080 | 5 | 44662413 | upstream gene variant | C/T | snv | 0.49 |
|
0.790 | 1.000 | 9 | 2008 | 2018 | ||||||||
|
0.882 | 0.080 | 7 | 116559145 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
0.780 | 1.000 | 8 | 2002 | 2013 | |||||||
|
0.882 | 0.080 | 10 | 62518923 | intron variant | G/A | snv | 0.16 |
|
0.770 | 1.000 | 7 | 2010 | 2017 | ||||||||
|
0.925 | 0.080 | 16 | 52500255 | intron variant | T/C | snv | 0.61 |
|
0.770 | 0.875 | 7 | 2007 | 2019 | ||||||||
|
0.882 | 0.080 | 6 | 151944320 | missense variant | A/G | snv |
|
0.760 | 1.000 | 6 | 2000 | 2013 | |||||||||
|
0.827 | 0.080 | 12 | 28002147 | intergenic variant | A/G | snv | 8.9E-02 |
|
0.750 | 1.000 | 5 | 2012 | 2016 | ||||||||
|
0.827 | 0.080 | 16 | 48224287 | missense variant | C/G;T | snv | 4.0E-06; 0.22 | 0.13 |
|
0.050 | 0.800 | 5 | 2009 | 2019 | |||||||
|
0.851 | 0.080 | 12 | 115398717 | regulatory region variant | A/G | snv | 0.43 |
|
0.740 | 1.000 | 4 | 2012 | 2015 | ||||||||
|
0.827 | 0.080 | 11 | 108227849 | missense variant | C/G;T | snv | 7.1E-03 |
|
0.040 | 1.000 | 4 | 2006 | 2010 | ||||||||
|
0.851 | 0.080 | 9 | 108126198 | regulatory region variant | G/A;T | snv |
|
0.740 | 1.000 | 4 | 2011 | 2016 | |||||||||
|
0.882 | 0.080 | 17 | 7673791 | missense variant | A/C;G | snv |
|
0.030 | 1.000 | 3 | 2003 | 2013 | |||||||||
|
0.925 | 0.080 | 13 | 32336705 | missense variant | A/G | snv | 2.3E-04 | 1.7E-04 |
|
0.030 | 1.000 | 3 | 2003 | 2017 | |||||||
|
0.925 | 0.080 | 16 | 23596749 | upstream gene variant | A/G | snv | 0.28 |
|
0.030 | 1.000 | 3 | 2008 | 2018 | ||||||||
|
0.925 | 0.080 | 2 | 201289477 | synonymous variant | C/A;T | snv | 4.0E-06; 9.0E-02 |
|
0.030 | 1.000 | 3 | 2010 | 2017 | ||||||||
|
0.925 | 0.080 | 11 | 108289623 | missense variant | C/T | snv | 1.1E-02 | 1.1E-02 |
|
0.030 | 0.667 | 3 | 2003 | 2007 | |||||||
|
0.925 | 0.080 | 1 | 226385663 | synonymous variant | A/G | snv | 0.43 | 0.42 |
|
0.030 | 0.667 | 3 | 2007 | 2018 | |||||||
|
0.882 | 0.080 | 21 | 15148511 | intergenic variant | G/A | snv | 0.32 |
|
0.730 | 0.750 | 3 | 2012 | 2015 | ||||||||
|
0.882 | 0.080 | 17 | 35103294 | missense variant | T/C | snv | 9.7E-03 | 1.1E-02 |
|
0.030 | 0.667 | 3 | 2004 | 2010 | |||||||
|
0.925 | 0.080 | 6 | 151618215 | 3 prime UTR variant | A/C | snv | 6.9E-02 |
|
0.730 | 1.000 | 3 | 2011 | 2016 | ||||||||
|
0.925 | 0.080 | 1 | 117210906 | 5 prime UTR variant | G/A;T | snv | 3.8E-02 |
|
0.030 | 1.000 | 3 | 2009 | 2015 | ||||||||
|
0.851 | 0.080 | 11 | 65641466 | missense variant | C/G;T | snv | 0.15 |
|
0.030 | 0.333 | 3 | 2009 | 2014 | ||||||||
|
0.925 | 0.080 | 11 | 72015122 | missense variant | G/C | snv | 3.4E-02 | 2.8E-02 |
|
0.030 | 0.667 | 3 | 2005 | 2008 | |||||||
|
0.925 | 0.080 | 11 | 108254034 | missense variant | T/C | snv | 8.0E-03 | 7.7E-03 |
|
0.030 | 1.000 | 3 | 2002 | 2008 | |||||||
|
0.925 | 0.080 | 13 | 32340099 | missense variant | C/T | snv | 1.8E-02 | 1.8E-02 |
|
0.030 | 1.000 | 3 | 2005 | 2019 |