Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057518083 | 0.851 | 0.120 | 14 | 101986552 | missense variant | C/T | snv | 21 | |||
rs1057518943 | 1.000 | 0.120 | 11 | 68906163 | missense variant | G/A;C | snv | 8.0E-06 | 5 | ||
rs121909112 | 0.882 | 0.080 | 7 | 76303855 | missense variant | C/G | snv | 5 | |||
rs137854521 | 0.851 | 0.200 | 11 | 22221100 | frameshift variant | -/A | delins | 9 | |||
rs143003434 | 1.000 | 0.080 | 2 | 32098840 | missense variant | G/A | snv | 3.2E-05 | 3.5E-05 | 7 | |
rs1555452876 | 1.000 | 16 | 2106222 | inframe deletion | CTC/- | delins | 5 | ||||
rs1565930588 | 0.882 | 0.160 | 12 | 119193787 | frameshift variant | TACTCAACATTTGG/- | del | 19 | |||
rs2230288 | 0.776 | 0.160 | 1 | 155236376 | missense variant | C/T | snv | 1.0E-02 | 1.0E-02 | 9 | |
rs387906905 | 0.882 | 0.120 | 12 | 109798819 | missense variant | C/T | snv | 9 | |||
rs387907265 | 0.925 | 0.080 | 17 | 4945982 | missense variant | A/C;G | snv | 2 | |||
rs63750687 | 0.752 | 0.200 | 14 | 73217137 | missense variant | C/A;G;T | snv | 30 | |||
rs757082154 | 1.000 | 0.120 | 2 | 178527491 | stop gained | G/A | snv | 1.2E-05 | 8 | ||
rs773690764 | 11 | 68917781 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 4 | |||
rs864321670 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 24 | |||
rs886039785 | 0.925 | 0.120 | X | 31496876 | stop gained | C/T | snv | 7 |