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 | 2 | 227055971 | missense variant | C/T | snv | 7.0E-06 | 0.800 | 1.000 | 3 | 1996 | 2003 | ||||
|
1 | 1.000 | 0.120 | 2 | 227119920 | missense variant | C/T | snv | 0.700 | 1.000 | 3 | 1996 | 2003 | |||||
|
1 | 1.000 | 0.120 | 2 | 227290062 | missense variant | G/A | snv | 0.800 | 1.000 | 1 | 2002 | 2002 | |||||
|
3 | 0.882 | 0.120 | 2 | 227254659 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 1997 | 1997 | |||||
|
3 | 0.882 | 0.120 | 2 | 227280587 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 2 | 227047541 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 2 | 227108597 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 227147412 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 227253640 | splice donor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 227294562 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 2 | 227098800 | splice acceptor variant | T/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 2 | 227307898 | stop gained | C/T | snv | 4.0E-06 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 2 | 227253638 | splice region variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 2 | 227267055 | synonymous variant | T/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 2 | 227051141 | missense variant | C/A;T | snv | 8.0E-06; 2.8E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 2 | 227246688 | stop gained | G/T | snv | 8.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.120 | 2 | 227052395 | missense variant | C/G;T | snv | 1.2E-05 | 2.1E-05 | 0.800 | 1.000 | 3 | 1996 | 2003 | |||
|
2 | 0.925 | 0.120 | 2 | 227289222 | missense variant | G/A;T | snv | 2.0E-05 | 0.800 | 1.000 | 1 | 2002 | 2002 | ||||
|
3 | 0.882 | 0.120 | 2 | 227266473 | missense variant | G/A;C | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 2 | 227088805 | missense variant | G/A | snv | 3.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.790 | 0.280 | X | 108598793 | missense variant | G/A | snv | 8.7E-05 | 4.7E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.120 | 2 | 227051131 | missense variant | C/T | snv | 1.2E-02 | 1.3E-02 | 0.700 | 1.000 | 3 | 1996 | 2003 |