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 | 0.080 | X | 139551218 | missense variant | G/A | snv | 0.800 | 0 | ||||||||
|
1 | 0.925 | 0.080 | X | 139560852 | missense variant | G/A | snv | 0.800 | 0 | ||||||||
|
1 | 0.882 | 0.080 | X | 139561710 | missense variant | C/T | snv | 0.800 | 1.000 | 0 | 1991 | 2012 | |||||
|
1 | 0.925 | 0.080 | X | 139561754 | missense variant | G/A | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 139561979 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 139561868 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 139551264 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 139561920 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 139562034 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 139561830 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 139561922 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 139548435 | missense variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 139537138 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 139551220 | missense variant | G/A;T | snv | 6.5E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | X | 139561989 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 139537120 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 139562030 | missense variant | C/T | snv | 3.3E-05 | 8.6E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | X | 139561982 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 139551112 | missense variant | C/A;T | snv | 5.5E-06 | 0.810 | 1.000 | 2 | 2012 | 2016 | ||||
|
1 | 0.882 | 0.080 | X | 139561566 | missense variant | G/A | snv | 0.810 | 1.000 | 2 | 1989 | 2018 | |||||
|
1 | 1.000 | 0.080 | X | 139537139 | missense variant | A/T | snv | 0.800 | 1.000 | 2 | 2012 | 2013 | |||||
|
1 | 0.925 | 0.080 | X | 139537145 | missense variant | G/A | snv | 5.5E-06 | 0.800 | 1.000 | 2 | 2012 | 2013 | ||||
|
1 | 1.000 | 0.080 | X | 139537158 | missense variant | A/C | snv | 0.800 | 1.000 | 2 | 2012 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 139541076 | missense variant | A/G | snv | 0.800 | 1.000 | 2 | 2012 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 139541085 | splice acceptor variant | A/C | snv | 0.800 | 1.000 | 2 | 2012 | 2013 |