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 | 0.120 | 11 | 64810045 | missense variant | A/C | snv | 0.800 | 1.000 | 28 | 1997 | 2017 | |||||
|
1 | 1.000 | 0.120 | 11 | 64807951 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 1997 | 2007 | |||||
|
1 | 1.000 | 0.120 | 11 | 64807952 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 11 | 64805078 | missense variant | A/G;T | snv | 0.800 | 1.000 | 28 | 1997 | 2017 | |||||
|
1 | 1.000 | 0.120 | 11 | 64805077 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 11 | 64804588 | stop gained | G/A | snv | 0.700 | 1.000 | 6 | 1997 | 2014 | |||||
|
2 | 1.000 | 0.120 | 11 | 64809695 | missense variant | G/C | snv | 0.810 | 1.000 | 29 | 1997 | 2017 | |||||
|
2 | 1.000 | 0.120 | 11 | 64805132 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 37 | 1997 | 2017 | |||||
|
1 | 1.000 | 0.120 | 11 | 64805758 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 11 | 64807557 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 11 | 64804789 | stop gained | G/A;T | snv | 7.0E-06 | 0.700 | 1.000 | 4 | 2004 | 2011 | ||||
|
1 | 1.000 | 0.120 | 11 | 64807554 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 1998 | 2011 | |||||
|
1 | 1.000 | 0.120 | 11 | 64807662 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1997 | 2005 | |||||
|
2 | 1.000 | 0.120 | 11 | 64805141 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 7 | 1997 | 2015 | ||||
|
2 | 1.000 | 0.120 | 11 | 64807178 | splice donor variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 64805056 | missense variant | G/T | snv | 0.710 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 11 | 64804818 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 64809792 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 64809942 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 11 | 64804755 | stop gained | C/T | snv | 0.710 | 1.000 | 5 | 1999 | 2012 | |||||
|
1 | 1.000 | 0.120 | 11 | 64809764 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 11 | 64807095 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 64808010 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 11 | 64806322 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 11 | 64806259 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 1998 | 2012 |