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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 12 | 120979061 | missense variant | C/T | snv | 2.9E-02 | 2.2E-02 |
|
0.850 | 0.857 | 1 | 2004 | 2018 | |||||||
|
0.925 | 0.160 | 12 | 120965129 | intron variant | C/T | snv | 0.28 |
|
0.810 | 1.000 | 1 | 2011 | 2014 | ||||||||
|
0.925 | 0.160 | 12 | 120965129 | intron variant | C/T | snv | 0.28 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | ||||||||
|
0.882 | 0.160 | 12 | 120965921 | splice region variant | G/A | snv | 0.59 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | ||||||||
|
0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | ||||||||
|
0.851 | 0.200 | 12 | 120951159 | intron variant | A/C | snv | 0.70 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.160 | 12 | 120979185 | intron variant | A/G | snv | 0.29 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
12 | 120967323 | intron variant | C/A;G;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
0.851 | 0.200 | 12 | 120951159 | intron variant | A/C | snv | 0.70 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.160 | 12 | 120979185 | intron variant | A/G | snv | 0.29 |
|
0.700 | 1.000 | 3 | 2012 | 2013 | ||||||||
|
12 | 120967407 | intron variant | T/C | snv | 0.43 |
|
0.700 | 1.000 | 2 | 2012 | 2013 | ||||||||||
|
0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 |
|
0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
12 | 120967323 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2013 | |||||||||||
|
0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 12 | 120966781 | intron variant | T/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.160 | 12 | 120979185 | intron variant | A/G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.160 | 12 | 120979185 | intron variant | A/G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
12 | 120942741 | intron variant | T/C | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.851 | 0.200 | 12 | 120951159 | intron variant | A/C | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.200 | 12 | 120951159 | intron variant | A/C | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.200 | 12 | 120951159 | intron variant | A/C | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.200 | 12 | 120951159 | intron variant | A/C | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2009 | 2009 |