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 | 0.080 | 8 | 54625911 | stop gained | C/T | snv | 0.710 | 1.000 | 1 | 2001 | 2001 | |||||
|
2 | 0.925 | 0.080 | 8 | 54621481 | missense variant | T/C;G | snv | 9.6E-05 | 0.700 | 1.000 | 9 | 1999 | 2012 | ||||
|
1 | 1.000 | 0.080 | 8 | 54627990 | missense variant | A/G | snv | 2.4E-05 | 0.700 | 1.000 | 9 | 1999 | 2012 | ||||
|
1 | 1.000 | 0.080 | 8 | 54626833 | missense variant | A/G | snv | 9.6E-05 | 2.1E-05 | 0.700 | 1.000 | 9 | 1999 | 2012 | |||
|
1 | 1.000 | 0.080 | 8 | 54625887 | missense variant | G/A | snv | 1.4E-04 | 1.3E-04 | 0.700 | 1.000 | 9 | 1999 | 2012 | |||
|
1 | 1.000 | 0.080 | 8 | 54629305 | missense variant | T/C | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 9 | 1999 | 2012 | |||
|
1 | 1.000 | 0.080 | 8 | 54625871 | missense variant | G/A;T | snv | 4.0E-06; 7.6E-05 | 0.700 | 1.000 | 9 | 1999 | 2012 | ||||
|
1 | 1.000 | 0.080 | 8 | 54628837 | missense variant | G/A;T | snv | 8.0E-06; 1.6E-05 | 0.700 | 1.000 | 9 | 1999 | 2012 | ||||
|
1 | 1.000 | 0.080 | 8 | 54625000 | missense variant | C/T | snv | 1.3E-02 | 1.0E-02 | 0.700 | 1.000 | 9 | 1999 | 2012 | |||
|
1 | 1.000 | 0.080 | 8 | 54628078 | frameshift variant | G/- | del | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||
|
1 | 1.000 | 0.080 | 8 | 54625917 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 54621331 | frameshift variant | -/GC | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 54628984 | frameshift variant | ATAAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 54630220 | missense variant | C/A | snv | 2.4E-04 | 2.2E-04 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.080 | 8 | 54625333 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 54626217 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 8 | 54627719 | frameshift variant | T/-;TT | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 8 | 54626162 | frameshift variant | TAAAT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 54626167 | frameshift variant | AATA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 54625339 | stop gained | -/TGAA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 54628618 | frameshift variant | -/A | delins | 0.700 | 0 |