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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 4 | 57110126 | missense variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
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 | ||||
|
1 | 1.000 | 0.080 | 22 | 30889607 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 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 | |||
|
1 | 1.000 | 0.080 | 22 | 40404316 | missense variant | G/A | snv | 1.8E-04 | 3.5E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 11 | 119206455 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.160 | 17 | 31261810 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 17 | 31221842 | splice region variant | A/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.320 | 11 | 119278508 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 4 | 2009 | 2012 | |||||
|
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 | |||||
|
5 | 0.827 | 0.080 | 11 | 119278182 | missense variant | A/C;G | snv | 0.710 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.827 | 0.280 | 17 | 31232832 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.280 | 17 | 31235729 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.827 | 0.280 | 17 | 31335032 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.280 | 17 | 31227232 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.280 | 17 | 31260481 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.240 | 12 | 112450352 | missense variant | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
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 | ||||||||
|
6 | 0.807 | 0.240 | 12 | 112450354 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.280 | 17 | 31327719 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.280 | 17 | 31206297 | stop gained | C/T | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.280 | 17 | 31357308 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.280 | 17 | 31330468 | stop gained | G/T | snv | 0.700 | 0 |