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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 17 | 31336750 | missense variant | T/C | snv | 0.800 | 1.000 | 1 | 2001 | 2001 | |||||
|
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 | ||||||||
|
6 | 0.827 | 0.280 | 17 | 31235773 | splice donor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
10 | 0.790 | 0.360 | 17 | 31258500 | missense variant | A/C;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 | |||||||
|
3 | 0.925 | 0.120 | 17 | 31201044 | missense variant | T/C;G | snv | 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 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 31358613 | stop gained | -/A | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 17 | 31336328 | splice region variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 31343138 | splice region variant | A/C | snv | 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 | ||||||||
|
13 | 0.790 | 0.320 | 17 | 31229061 | stop gained | C/T | snv | 0.700 | 0 |