Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
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 | ||
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 | |||
rs121908791 | 1.000 | 0.120 | 7 | 117509143 | splice donor variant | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs121908798 | 1.000 | 0.120 | 7 | 117530950 | frameshift variant | TAT/G;T | delins | 1 | |||
rs121908800 | 1.000 | 0.120 | 7 | 117504365 | splice donor variant | T/A;C;G | snv | 1 | |||
rs121908804 | 1.000 | 0.120 | 7 | 117535388 | splice donor variant | GAGAATGATGATGAAGTACAGG/- | delins | 1 | |||
rs121909010 | 1.000 | 0.120 | 7 | 117652915 | stop gained | G/A | snv | 1 | |||
rs121909013 | 1.000 | 0.120 | 7 | 117587805 | missense variant | G/A | snv | 4.0E-06 | 1 | ||
rs121909015 | 1.000 | 0.120 | 7 | 117642593 | missense variant | G/C | snv | 8.0E-06 | 1 | ||
rs121909016 | 1.000 | 0.120 | 7 | 117540163 | missense variant | C/G | snv | 1 | |||
rs121909018 | 1.000 | 0.120 | 7 | 117592646 | stop gained | G/T | snv | 1 | |||
rs121909020 | 1.000 | 0.120 | 7 | 117611640 | missense variant | G/A;C | snv | 4.0E-06 | 1 | ||
rs121909023 | 1.000 | 0.120 | 7 | 117592313 | stop gained | A/T | snv | 1 | |||
rs121909025 | 1.000 | 0.120 | 7 | 117509040 | stop gained | G/A | snv | 1 | |||
rs121909026 | 1.000 | 0.120 | 7 | 117652905 | stop gained | C/A;T | snv | 4.0E-06 | 1 |