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 | 1.000 | 0.040 | 10 | 119670121 | missense variant | T/C | snv | 0.17 | 0.15 | 0.800 | 1.000 | 1 | 2011 | 2011 | |||
|
7 | 0.827 | 0.120 | 10 | 119676917 | missense variant | G/A | snv | 0.710 | 1.000 | 4 | 2011 | 2017 | |||||
|
4 | 0.882 | 0.120 | 10 | 119676479 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2011 | 2014 | ||||
|
3 | 0.925 | 0.080 | 10 | 119670037 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 3 | 2011 | 2015 | ||||
|
2 | 1.000 | 10 | 119676617 | frameshift variant | C/- | delins | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||||
|
1 | 10 | 119651752 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 10 | 119669920 | frameshift variant | -/TGTGTAC | delins | 0.700 | 0 | ||||||||||
|
1 | 10 | 119651742 | frameshift variant | C/-;CC | delins | 0.700 | 0 | ||||||||||
|
1 | 10 | 119651774 | frameshift variant | ACCGGCTG/- | delins | 0.700 | 0 | ||||||||||
|
1 | 10 | 119676851 | stop gained | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 10 | 119672657 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.080 | 10 | 119672477 | stop gained | C/T | snv | 0.700 | 0 |