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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.200 | X | 100407579 | missense variant | T/C;G | snv | 0.800 | 1.000 | 17 | 1990 | 2017 | |||||
|
1 | 1.000 | 0.200 | X | 100407903 | missense variant | T/A;C | snv | 0.800 | 1.000 | 15 | 2008 | 2017 | |||||
|
1 | 1.000 | 0.200 | X | 100407813 | missense variant | G/T | snv | 0.700 | 1.000 | 12 | 2008 | 2016 | |||||
|
1 | 1.000 | 0.200 | X | 100407897 | missense variant | T/C | snv | 0.700 | 1.000 | 12 | 2008 | 2016 | |||||
|
1 | 1.000 | 0.200 | X | 100406898 | missense variant | G/A;C;T | snv | 4.4E-05 | 0.800 | 1.000 | 12 | 2008 | 2016 | ||||
|
1 | 1.000 | 0.200 | X | 100406927 | missense variant | G/A;C | snv | 0.800 | 1.000 | 12 | 2008 | 2016 | |||||
|
1 | 1.000 | 0.200 | X | 100408027 | missense variant | C/G;T | snv | 5.6E-06; 5.6E-06 | 0.700 | 1.000 | 12 | 2008 | 2016 | ||||
|
12 | 0.790 | 0.240 | X | 100407507 | frameshift variant | G/-;GG | delins | 0.700 | 1.000 | 6 | 2008 | 2017 | |||||
|
1 | 1.000 | 0.200 | X | 100407077 | frameshift variant | G/-;GG | delins | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||
|
1 | 1.000 | 0.200 | X | 100402687 | frameshift variant | T/- | del | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.200 | X | 100407680 | stop gained | G/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.200 | X | 100407415 | stop gained | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.200 | X | 100403522 | coding sequence variant | -/CTCTTTCCCCTTAGGCTCACTTTCTCC | delins | 5.8E-06 | 1.9E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.200 | X | 100406783 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 100402799 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 100407891 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 100407276 | missense variant | A/T | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 100408345 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 100406586 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 100408456 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 100407043 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 100407150 | frameshift variant | CCAGGTC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 100407718 | frameshift variant | -/GGTCG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 100407979 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | X | 100408108 | stop gained | GC/AT | mnv | 0.700 | 0 |