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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
35 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
22 | 0.695 | 0.280 | 4 | 54733166 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
31 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.280 | 17 | 31232832 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
32 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 0.810 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.827 | 0.280 | 17 | 31340553 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.280 | 17 | 31235773 | splice donor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 4 | 57110126 | missense variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
19 | 0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
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 | ||||
|
25 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 6 | 2000 | 2012 | |||||
|
24 | 0.677 | 0.320 | 4 | 54733154 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.820 | 1.000 | 10 | 2005 | 2019 | ||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.810 | 1.000 | 2 | 2007 | 2012 | |||||
|
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 | |||||
|
31 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
13 | 0.752 | 0.280 | 12 | 112473023 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
24 | 0.701 | 0.280 | 12 | 112488466 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
8 | 0.807 | 0.320 | 12 | 112489080 | missense variant | T/A;G | snv | 0.700 | 1.000 | 12 | 2002 | 2013 | |||||
|
47 | 0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
27 | 0.708 | 0.400 | 12 | 112450364 | missense variant | T/A;G | snv | 4.0E-06 | 0.700 | 1.000 | 8 | 2002 | 2012 | ||||
|
12 | 0.827 | 0.240 | 12 | 112450362 | missense variant | A/C;G;T | snv | 0.800 | 1.000 | 25 | 2001 | 2016 |