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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv | 0.870 | 1.000 | 10 | 2003 | 2019 | |||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.820 | 1.000 | 10 | 2005 | 2019 | ||||
|
8 | 0.776 | 0.280 | 12 | 112450361 | missense variant | G/A;C;T | snv | 0.810 | 1.000 | 22 | 2003 | 2017 | |||||
|
26 | 0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.810 | 1.000 | 3 | 2007 | 2014 | ||||
|
50 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.810 | 1.000 | 3 | 2007 | 2014 | ||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.810 | 1.000 | 2 | 2007 | 2012 | |||||
|
32 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 0.810 | 1.000 | 1 | 2015 | 2015 | |||||
|
12 | 0.827 | 0.240 | 12 | 112450362 | missense variant | A/C;G;T | snv | 0.800 | 1.000 | 25 | 2001 | 2016 | |||||
|
7 | 0.827 | 0.200 | 12 | 112450407 | missense variant | A/C;G;T | snv | 0.800 | 1.000 | 13 | 2003 | 2016 | |||||
|
20 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 13 | 2003 | 2017 | ||||
|
19 | 0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv | 0.800 | 1.000 | 7 | 2003 | 2016 | |||||
|
17 | 0.742 | 0.280 | 12 | 112450395 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 3 | 2003 | 2016 | |||||
|
3 | 0.882 | 0.240 | 12 | 112450385 | missense variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2003 | 2016 | |||||
|
1 | 1.000 | 0.080 | 5 | 143041855 | missense variant | A/C;G | snv | 4.3E-06; 4.3E-06 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
13 | 0.742 | 0.320 | 12 | 112450398 | missense variant | C/T | snv | 0.730 | 1.000 | 3 | 2004 | 2014 | |||||
|
39 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.710 | 1.000 | 15 | 2002 | 2013 | |||||
|
25 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 6 | 2000 | 2012 | |||||
|
5 | 0.827 | 0.080 | 11 | 119278182 | missense variant | A/C;G | snv | 0.710 | 1.000 | 1 | 2015 | 2015 | |||||
|
8 | 0.807 | 0.320 | 12 | 112489080 | missense variant | T/A;G | snv | 0.700 | 1.000 | 12 | 2002 | 2013 | |||||
|
27 | 0.708 | 0.400 | 12 | 112450364 | missense variant | T/A;G | snv | 4.0E-06 | 0.700 | 1.000 | 8 | 2002 | 2012 | ||||
|
3 | 0.882 | 0.320 | 11 | 119278508 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 4 | 2009 | 2012 | |||||
|
9 | 0.790 | 0.360 | 12 | 112489084 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2003 | 2016 | |||||
|
5 | 0.851 | 0.320 | 18 | 44951942 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.827 | 0.280 | 17 | 31232832 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.280 | 17 | 31340553 | stop gained | C/T | snv | 0.700 | 0 |