Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057517342 | 1.000 | 0.120 | 7 | 117535406 | splice donor variant | -/TACA | delins | 1 | |||
rs1057517404 | 1.000 | 0.120 | 7 | 117642569 | frameshift variant | -/AA | delins | 1 | |||
rs1059057 | 1.000 | 0.120 | 10 | 79613765 | synonymous variant | A/G | snv | 9.9E-02 | 6.4E-02 | 1 | |
rs1060503164 | 1.000 | 0.120 | 7 | 117603783 | splice donor variant | G/A | snv | 1 | |||
rs1136451 | 1.000 | 0.120 | 10 | 79612325 | synonymous variant | A/G | snv | 0.21 | 0.17 | 1 | |
rs117230773 | 1.000 | 0.120 | 6 | 32465964 | intron variant | G/A | snv | 1 | |||
rs1177201180 | 1.000 | 0.120 | 7 | 117592160 | missense variant | A/T | snv | 1 | |||
rs1199914684 | 1.000 | 0.120 | 7 | 117536639 | stop gained | G/T | snv | 1 | |||
rs1204521684 | 1.000 | 0.120 | 7 | 117540180 | missense variant | T/A;C;G | snv | 4.0E-06 | 1 | ||
rs121908750 | 1.000 | 0.120 | 7 | 117509140 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs121908754 | 1.000 | 0.120 | 7 | 117559643 | stop gained | C/A | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs121908763 | 1.000 | 0.120 | 7 | 117627640 | stop gained | C/G | snv | 8.0E-06 | 1 | ||
rs121908764 | 1.000 | 0.120 | 7 | 117627664 | stop gained | G/A | snv | 1 | |||
rs121908765 | 1.000 | 0.120 | 7 | 117627665 | stop gained | G/A;T | snv | 1.2E-05 | 1 | ||
rs121908766 | 1.000 | 0.120 | 7 | 117627765 | stop gained | C/A;T | snv | 8.1E-06 | 1 | ||
rs121908770 | 1.000 | 0.120 | 7 | 117531067 | frameshift variant | A/- | del | 1 | |||
rs121908772 | 1.000 | 0.120 | 7 | 117536604 | frameshift variant | A/- | delins | 1 | |||
rs121908773 | 1.000 | 0.120 | 7 | 117536607 | frameshift variant | AT/- | delins | 1 | |||
rs121908774 | 1.000 | 0.120 | 7 | 117540259 | frameshift variant | C/- | del | 7.0E-06 | 1 | ||
rs121908775 | 1.000 | 0.120 | 7 | 117559548 | frameshift variant | CA/- | del | 1 | |||
rs121908776 | 1.000 | 0.120 | 7 | 117559613 | stop gained | TA/- | delins | 1 | |||
rs121908777 | 1.000 | 0.120 | 7 | 117591984 | inframe deletion | TGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCCAAA/-;TGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCCAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCCAAA | delins | 1 | |||
rs121908781 | 1.000 | 0.120 | 7 | 117610567 | frameshift variant | C/-;CC | delins | 1 | |||
rs121908782 | 1.000 | 0.120 | 7 | 117627586 | frameshift variant | CCAA/- | delins | 1 | |||
rs121908788 | 1.000 | 0.120 | 7 | 117603611 | stop gained | -/G | ins | 1 |