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 | |||||
|
31 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
18 | 0.752 | 0.320 | 12 | 112473040 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
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 | ||||
|
27 | 0.672 | 0.400 | 12 | 25227341 | missense variant | T/A;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.807 | 0.240 | 11 | 119278181 | missense variant | T/A;C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.827 | 0.280 | 17 | 31330468 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
39 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.710 | 1.000 | 15 | 2002 | 2013 | |||||
|
22 | 0.695 | 0.280 | 4 | 54733166 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
10 | 0.790 | 0.240 | 12 | 112450408 | missense variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.040 | 1.000 | 4 | 2006 | 2019 | ||||
|
1 | 1.000 | 0.080 | 8 | 122951616 | missense variant | G/A;T | snv | 8.8E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
6 | 0.827 | 0.280 | 17 | 31235773 | splice donor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.280 | 12 | 112450361 | missense variant | G/A;C;T | snv | 0.810 | 1.000 | 22 | 2003 | 2017 | |||||
|
19 | 0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv | 0.800 | 1.000 | 7 | 2003 | 2016 | |||||
|
9 | 0.790 | 0.360 | 12 | 112489084 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2003 | 2016 | |||||
|
24 | 0.677 | 0.320 | 4 | 54733154 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.827 | 0.280 | 17 | 31232832 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.280 | 17 | 31327719 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
20 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 13 | 2003 | 2017 | ||||
|
25 | 0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv | 0.870 | 1.000 | 10 | 2003 | 2019 | |||||
|
3 | 0.882 | 0.240 | 12 | 112450385 | missense variant | G/A;C | snv | 0.800 | 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 |