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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 1 | 204156313 | synonymous variant | A/G | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 1999 | 2003 | ||||||||
|
1.000 | 1 | 204159421 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.080 | 1 | 204162017 | missense variant | A/T | snv | 8.0E-06 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 1 | 204162017 | missense variant | A/T | snv | 8.0E-06 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.120 | 1 | 204159726 | intron variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.120 | 1 | 204159726 | intron variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 1 | 204155737 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.120 | 1 | 204159515 | synonymous variant | A/G | snv | 8.0E-06 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.120 | 1 | 204159515 | synonymous variant | A/G | snv | 8.0E-06 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.925 | 0.120 | 1 | 204159515 | synonymous variant | A/G | snv | 8.0E-06 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.120 | 1 | 204159515 | synonymous variant | A/G | snv | 8.0E-06 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.120 | 1 | 204159515 | synonymous variant | A/G | snv | 8.0E-06 | 3.5E-05 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.882 | 0.040 | 1 | 204162058 | synonymous variant | T/G | snv | 0.14 | 0.18 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.040 | 1 | 204162058 | synonymous variant | T/G | snv | 0.14 | 0.18 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.040 | 1 | 204162058 | synonymous variant | T/G | snv | 0.14 | 0.18 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 1 | 204160543 | intron variant | A/C;G;T | snv | 0.25; 2.0E-05; 1.2E-05 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 1 | 204160543 | intron variant | A/C;G;T | snv | 0.25; 2.0E-05; 1.2E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 1 | 204167813 | intron variant | C/T | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1 | 204163510 | intron variant | T/A | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 0.040 | 1 | 204171778 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.120 | 1 | 204156683 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 1 | 204156683 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 1 | 204156683 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 1 | 204156683 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 1 | 204156683 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 |