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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 3 | 52221518 | missense variant | G/A | snv | 8.1E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 3 | 52221614 | missense variant | C/A;T | snv | 8.0E-06; 6.0E-05 |
|
0.700 | 0 | |||||||||||
|
0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 |
|
0.070 | 0.714 | 7 | 2009 | 2017 | ||||||||
|
0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 |
|
0.050 | 1.000 | 5 | 2012 | 2019 | ||||||||
|
0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 |
|
0.050 | 0.400 | 5 | 2012 | 2016 | ||||||||
|
0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 |
|
0.050 | 1.000 | 5 | 2012 | 2019 | ||||||||
|
0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 |
|
0.050 | 1.000 | 5 | 2012 | 2019 | ||||||||
|
0.658 | 0.440 | 3 | 52226766 | intron variant | A/G | snv | 0.20 |
|
0.050 | 0.600 | 5 | 2007 | 2017 | ||||||||
|
0.732 | 0.320 | 3 | 52224356 | intron variant | T/C | snv | 0.51 | 0.54 |
|
0.040 | 0.500 | 4 | 2012 | 2017 | |||||||
|
0.732 | 0.320 | 3 | 52224356 | intron variant | T/C | snv | 0.51 | 0.54 |
|
0.040 | 1.000 | 4 | 2012 | 2015 | |||||||
|
0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 |
|
0.040 | 0.750 | 4 | 2011 | 2018 | ||||||||
|
0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 |
|
0.040 | 0.750 | 4 | 2011 | 2018 | ||||||||
|
0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 |
|
0.040 | 0.750 | 4 | 2011 | 2018 | ||||||||
|
0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 |
|
0.030 | 1.000 | 3 | 2013 | 2019 | ||||||||
|
0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 |
|
0.030 | 1.000 | 3 | 2014 | 2018 | ||||||||
|
0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 |
|
0.030 | 1.000 | 3 | 2013 | 2019 | ||||||||
|
0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 |
|
0.030 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 |
|
0.020 | 1.000 | 2 | 2011 | 2014 | ||||||||
|
0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 |
|
0.020 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.732 | 0.320 | 3 | 52224356 | intron variant | T/C | snv | 0.51 | 0.54 |
|
0.020 | 1.000 | 2 | 2014 | 2014 | |||||||
|
0.732 | 0.320 | 3 | 52224356 | intron variant | T/C | snv | 0.51 | 0.54 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | |||||||
|
0.732 | 0.320 | 3 | 52224356 | intron variant | T/C | snv | 0.51 | 0.54 |
|
0.020 | 1.000 | 2 | 2014 | 2014 | |||||||
|
0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 |
|
0.020 | 1.000 | 2 | 2010 | 2017 |