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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.752 | 0.280 | 12 | 112450416 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.280 | 17 | 31334927 | stop gained | 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 | ||||||||
|
14 | 0.752 | 0.280 | 12 | 112489086 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.280 | 17 | 31327719 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.280 | 17 | 31338739 | stop gained | C/A;G | snv | 4.0E-06 | 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 | ||||||||
|
7 | 0.827 | 0.280 | 17 | 31327839 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.280 | 17 | 31330468 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.280 | 17 | 31335016 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.807 | 0.320 | 12 | 112489080 | missense variant | T/A;G | snv | 0.700 | 1.000 | 12 | 2002 | 2013 | |||||
|
3 | 0.882 | 0.320 | 11 | 119278508 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 4 | 2009 | 2012 | |||||
|
13 | 0.742 | 0.320 | 12 | 112450398 | missense variant | C/T | snv | 0.730 | 1.000 | 3 | 2004 | 2014 | |||||
|
19 | 0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
24 | 0.677 | 0.320 | 4 | 54733154 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.851 | 0.320 | 18 | 44951942 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
28 | 0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
18 | 0.752 | 0.320 | 12 | 112473040 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
11 | 0.827 | 0.320 | 17 | 31169985 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
13 | 0.790 | 0.320 | 17 | 31229061 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.790 | 0.360 | 12 | 112489084 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2003 | 2016 |