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 | 1.000 | 0.120 | X | 154413248 | missense variant | C/A;T | snv | 0.810 | 1.000 | 4 | 1997 | 2002 | |||||
|
1 | 1.000 | 0.120 | X | 154413549 | missense variant | T/C | snv | 0.800 | 1.000 | 4 | 1997 | 2002 | |||||
|
1 | 1.000 | 0.120 | X | 154420037 | missense variant | G/A | snv | 0.800 | 1.000 | 4 | 1997 | 2002 | |||||
|
2 | 1.000 | 0.120 | X | 154420676 | missense variant | G/A;C | snv | 0.800 | 1.000 | 4 | 1997 | 2002 | |||||
|
1 | 1.000 | 0.120 | X | 154413249 | missense variant | G/A;T | snv | 0.700 | 1.000 | 5 | 1997 | 2013 | |||||
|
1 | 1.000 | 0.120 | X | 154420094 | missense variant | G/A | snv | 0.700 | 1.000 | 5 | 1997 | 2014 | |||||
|
1 | 1.000 | 0.120 | X | 154413564 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 2006 | 2017 | |||||
|
1 | 1.000 | 0.120 | X | 154420038 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 1991 | 1997 | |||||
|
2 | 1.000 | 0.120 | X | 154413544 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2001 | 2011 | |||||
|
1 | 1.000 | 0.120 | X | 154420915 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | X | 154413525 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | X | 154413507 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | X | 154420657 | splice acceptor variant | G/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.120 | X | 154412129 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.120 | X | 154420961 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 154412184 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 154413504 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 154420211 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | X | 154420666 | frameshift variant | TG/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | X | 154420212 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 154419702 | splice region variant | C/G;T | snv | 5.5E-06 | 9.4E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | X | 154412203 | missense variant | C/G | snv | 0.700 | 0 |