| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.160 | 19 | 45408744 | missense variant | A/C | snv | 0.21 | 0.20 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.776 | 0.160 | 6 | 8653014 | non coding transcript exon variant | A/C | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.160 | 14 | 64406881 | intron variant | A/C | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.807 | 0.240 | 5 | 132660808 | 3 prime UTR variant | A/C | snv | 0.67 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 3 | 12369739 | intron variant | A/C | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.090 | 0.889 | 9 | 2006 | 2013 | ||||||||
|
0.776 | 0.280 | 10 | 94981296 | missense variant | A/C;G | snv | 6.3E-02; 4.0E-06 |
|
0.030 | 1.000 | 3 | 2007 | 2014 | ||||||||
|
0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.080 | 8 | 42277660 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 6 | 29556175 | missense variant | A/C;G | snv | 4.1E-06; 0.25 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.742 | 0.240 | 6 | 33208047 | upstream gene variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.827 | 0.080 | 1 | 186674636 | missense variant | A/C;G | snv | 4.0E-06; 7.6E-03 | 1.4E-02 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.120 | 6 | 162728023 | 5 prime UTR variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.827 | 0.080 | 6 | 158014540 | intron variant | A/C;G | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.900 | 0.975 | 150 | 2004 | 2020 | ||||||||
|
0.662 | 0.440 | 3 | 37012077 | missense variant | A/C;G;T | snv | 0.23 |
|
0.050 | 0.800 | 5 | 2007 | 2017 | ||||||||
|
0.763 | 0.360 | 12 | 102481791 | upstream gene variant | A/C;G;T | snv |
|
0.020 | 1.000 | 2 | 2010 | 2018 | |||||||||
|
0.790 | 0.240 | 2 | 47410107 | missense variant | A/C;G;T | snv | 5.8E-03 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.120 | 12 | 47884227 | intron variant | A/C;G;T | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 6 | 104959787 | intron variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 |
|
0.070 | 1.000 | 7 | 2008 | 2013 | ||||||||
|
1.000 | 0.080 | 1 | 221724004 | intron variant | A/C;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2015 | |||||||||
|
0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 |
|
0.020 | 0.500 | 2 | 2006 | 2014 |