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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.800 | 0.947 | 474 | 2003 | 2020 | ||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.800 | 0.909 | 21 | 2006 | 2019 | ||||||||
|
0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.780 | 0.778 | 8 | 2004 | 2019 | ||||||||
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.780 | 1.000 | 8 | 1995 | 2020 | ||||||||
|
0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.780 | 0.909 | 8 | 2000 | 2019 | ||||||||
|
0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.770 | 1.000 | 7 | 2012 | 2020 | ||||||||
|
0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.760 | 0.857 | 6 | 1999 | 2019 | ||||||||
|
0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 |
|
0.740 | 1.000 | 4 | 2014 | 2016 | ||||||||
|
0.641 | 0.400 | 17 | 7674230 | missense variant | C/A;G;T | snv |
|
0.740 | 1.000 | 4 | 2006 | 2018 | |||||||||
|
0.627 | 0.520 | 11 | 533874 | missense variant | T/A;C;G | snv |
|
0.730 | 1.000 | 3 | 2014 | 2017 | |||||||||
|
0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.730 | 0.800 | 3 | 2004 | 2015 | ||||||||
|
0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv |
|
0.730 | 0.800 | 3 | 2010 | 2014 | |||||||||
|
0.827 | 0.160 | 7 | 116771869 | missense variant | C/T | snv | 2.9E-03 | 3.2E-03 |
|
0.730 | 1.000 | 3 | 2003 | 2014 | |||||||
|
0.882 | 0.240 | 3 | 10142088 | missense variant | C/T | snv | 2.0E-04 | 3.8E-04 |
|
0.720 | 1.000 | 2 | 2013 | 2017 | |||||||
|
0.763 | 0.480 | 7 | 140781617 | missense variant | C/A;G;T | snv |
|
0.720 | 1.000 | 2 | 2004 | 2016 | |||||||||
|
0.752 | 0.200 | 7 | 116771936 | missense variant | C/T | snv | 7.9E-03 | 9.0E-03 |
|
0.720 | 1.000 | 2 | 2003 | 2015 | |||||||
|
0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv |
|
0.710 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.763 | 0.200 | 17 | 39711955 | missense variant | C/A;T | snv |
|
0.710 | 1.000 | 1 | 2012 | 2014 | |||||||||
|
0.807 | 0.120 | 7 | 116783374 | missense variant | T/G | snv |
|
0.710 | 1.000 | 1 | 2003 | 2007 | |||||||||
|
1.000 | 0.040 | 3 | 41224631 | missense variant | C/G;T | snv |
|
0.710 | 1.000 | 1 | 2011 | 2014 | |||||||||
|
0.776 | 0.120 | 11 | 533873 | missense variant | CT/AC;TC | mnv |
|
0.710 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.827 | 0.200 | 7 | 116783360 | missense variant | A/G | snv |
|
0.710 | 1.000 | 1 | 2007 | 2017 | |||||||||
|
0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 |
|
0.710 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.724 | 0.440 | 11 | 533873 | missense variant | C/A;G;T | snv |
|
0.710 | 1.000 | 1 | 2010 | 2014 | |||||||||
|
0.925 | 0.080 | 17 | 39724744 | missense variant | G/A | snv |
|
0.710 | 1.000 | 1 | 2011 | 2014 |