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 | 0.200 | 7 | 140778011 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 3 | 2006 | 2009 | |||||||||
|
0.882 | 0.200 | 13 | 108210436 | missense variant | C/A;T | snv | 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.763 | 0.320 | 7 | 6005918 | missense variant | C/A;T | snv | 1.6E-04; 8.1E-06 |
|
0.700 | 0 | |||||||||||
|
0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 2 | 47799002 | missense variant | T/C | snv | 3.6E-05 | 5.6E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 9 | 21970990 | missense variant | A/G;T | snv | 2.9E-05; 3.0E-04 |
|
0.700 | 0 | |||||||||||
|
0.672 | 0.160 | 9 | 130872896 | missense variant | C/T | snv |
|
0.100 | 1.000 | 18 | 2004 | 2018 | |||||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.100 | 1.000 | 10 | 2006 | 2017 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.070 | 1.000 | 7 | 2001 | 2016 | |||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.050 | 1.000 | 5 | 2007 | 2010 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.040 | 1.000 | 4 | 2011 | 2018 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.040 | 1.000 | 4 | 2011 | 2018 | |||||||||
|
0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv |
|
0.040 | 1.000 | 4 | 2007 | 2018 | |||||||||
|
0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv |
|
0.040 | 1.000 | 4 | 2007 | 2018 | |||||||||
|
0.763 | 0.240 | 4 | 54733174 | missense variant | T/A;G | snv |
|
0.030 | 1.000 | 3 | 2011 | 2019 | |||||||||
|
0.827 | 0.080 | 17 | 42301316 | missense variant | C/T | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 2004 | 2018 | ||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.030 | 1.000 | 3 | 2002 | 2006 | |||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.030 | 1.000 | 3 | 2013 | 2015 | |||||||
|
0.701 | 0.280 | 8 | 89978293 | missense variant | T/C;G | snv | 1.2E-03 |
|
0.030 | 1.000 | 3 | 2008 | 2013 | ||||||||
|
0.807 | 0.160 | 4 | 99594840 | missense variant | T/C | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 2009 | 2017 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.020 | < 0.001 | 2 | 2012 | 2016 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.020 | 1.000 | 2 | 2012 | 2013 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | < 0.001 | 2 | 2012 | 2016 | |||||||||
|
0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv |
|
0.020 | 1.000 | 2 | 2014 | 2016 | |||||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
0.020 | 1.000 | 2 | 2011 | 2014 |