Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.780 | 0.909 | 3 | 2000 | 2019 | ||||
|
5 | 0.882 | 0.120 | 5 | 68293310 | missense variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2010 | 2014 | |||||
|
1 | 15 | 66481830 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2009 | 2013 | |||||||
|
42 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.770 | 1.000 | 2 | 2012 | 2020 | ||||
|
17 | 0.689 | 0.240 | 20 | 58909365 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2012 | 2014 | ||||
|
34 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.730 | 0.800 | 2 | 2004 | 2015 | ||||
|
15 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 0.730 | 0.800 | 2 | 2010 | 2014 | |||||
|
25 | 0.641 | 0.400 | 17 | 7674230 | missense variant | C/A;G;T | snv | 0.740 | 1.000 | 2 | 2006 | 2018 | |||||
|
1 | 15 | 66436762 | missense variant | T/A;G | snv | 0.700 | 1.000 | 2 | 2009 | 2013 | |||||||
|
1 | 5 | 68295271 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2014 | 2014 | ||||||
|
2 | 0.882 | 0.240 | 3 | 10142088 | missense variant | C/T | snv | 2.0E-04 | 3.8E-04 | 0.720 | 1.000 | 1 | 2013 | 2017 | |||
|
30 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.040 | 15 | 66436786 | missense variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
10 | 0.763 | 0.200 | 17 | 39711955 | missense variant | C/A;T | snv | 0.710 | 1.000 | 1 | 2012 | 2014 | |||||
|
1 | 12 | 56088073 | missense variant | C/A;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 0.851 | 0.240 | 15 | 66436750 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 15 | 66436810 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 15 | 66436814 | missense variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 0.925 | 0.080 | 15 | 66481818 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.807 | 0.120 | 7 | 116783374 | missense variant | T/G | snv | 0.710 | 1.000 | 1 | 2003 | 2007 | |||||
|
2 | 3 | 41224630 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
2 | 1.000 | 0.040 | 3 | 41224631 | missense variant | C/G;T | snv | 0.710 | 1.000 | 1 | 2011 | 2014 | |||||
|
4 | 0.882 | 0.160 | 5 | 68293790 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 5 | 68295257 | missense variant | G/T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
5 | 0.925 | 0.120 | 5 | 68295269 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 |