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 | 0.200 | 12 | 47879016 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 12 | 1988 | 2017 | ||||||||
|
1.000 | 0.200 | 12 | 47865085 | missense variant | C/T | snv |
|
0.800 | 1.000 | 12 | 1988 | 2017 | |||||||||
|
0.827 | 0.200 | 12 | 47846743 | missense variant | C/A | snv |
|
0.800 | 1.000 | 12 | 1988 | 2017 | |||||||||
|
1.000 | 0.200 | 12 | 47878977 | missense variant | C/A;G;T | snv | 2.4E-05; 4.0E-06 |
|
0.800 | 1.000 | 12 | 1988 | 2017 | ||||||||
|
0.925 | 0.200 | 12 | 47846444 | missense variant | G/C | snv |
|
0.800 | 1.000 | 12 | 1988 | 2017 | |||||||||
|
0.925 | 0.200 | 12 | 47846418 | missense variant | A/C | snv | 5.4E-06 |
|
0.800 | 1.000 | 12 | 1988 | 2017 | ||||||||
|
0.807 | 0.360 | 12 | 47844859 | missense variant | G/A;T | snv |
|
0.800 | 1.000 | 12 | 1988 | 2017 | |||||||||
|
1.000 | 0.200 | 12 | 47844994 | missense variant | C/T | snv | 4.0E-06 |
|
0.800 | 1.000 | 12 | 1988 | 2017 | ||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.100 | 0.800 | 10 | 2009 | 2019 | ||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.100 | 0.800 | 10 | 2009 | 2019 | ||||||||
|
0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv |
|
0.070 | 0.714 | 7 | 2009 | 2019 | |||||||||
|
0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv |
|
0.070 | 0.714 | 7 | 2009 | 2019 | |||||||||
|
0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv |
|
0.050 | 1.000 | 5 | 2008 | 2015 | |||||||||
|
0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv |
|
0.050 | 0.600 | 5 | 2015 | 2019 | |||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.050 | 1.000 | 5 | 2011 | 2018 | ||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.050 | 1.000 | 5 | 2011 | 2020 | ||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.050 | 1.000 | 5 | 2011 | 2018 | ||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.050 | 1.000 | 5 | 2011 | 2018 | ||||||||
|
0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv |
|
0.040 | 1.000 | 4 | 2012 | 2018 | |||||||||
|
0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv |
|
0.040 | 1.000 | 4 | 2014 | 2018 | |||||||||
|
0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 |
|
0.040 | 0.250 | 4 | 2011 | 2013 | ||||||||
|
0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv |
|
0.030 | 0.667 | 3 | 2015 | 2019 | |||||||||
|
0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv |
|
0.030 | 1.000 | 3 | 2009 | 2015 | |||||||||
|
0.807 | 0.360 | 12 | 47844859 | missense variant | G/A;T | snv |
|
0.030 | 1.000 | 3 | 1996 | 2017 | |||||||||
|
0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv |
|
0.030 | 1.000 | 3 | 2016 | 2019 |