Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs28897696 | 0.807 | 0.200 | 17 | 43063903 | missense variant | G/A;C;T | snv | 2.8E-05; 4.0E-06; 2.0E-05 | 11 | ||
rs80356898 | 0.752 | 0.200 | 17 | 43093844 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 | 11 | ||
rs80356952 | 0.790 | 0.200 | 17 | 43093901 | stop gained | G/A | snv | 9 | |||
rs62625307 | 0.827 | 0.200 | 17 | 43091933 | stop gained | G/A | snv | 4.0E-06 | 8 | ||
rs62625308 | 0.851 | 0.200 | 17 | 43091924 | stop gained | G/A;C | snv | 1.2E-05 | 8 | ||
rs80356962 | 0.807 | 0.200 | 17 | 43047666 | stop gained | C/G;T | snv | 4.0E-06 | 7.0E-06 | 8 | |
rs80357086 | 0.851 | 0.200 | 17 | 43106480 | stop gained | A/G;T | snv | 8 | |||
rs80357115 | 0.790 | 0.200 | 17 | 43092597 | stop gained | A/C;T | snv | 8 | |||
rs80357750 | 0.790 | 0.200 | 17 | 43115759 | frameshift variant | G/- | delins | 8 | |||
rs80357906 | 0.827 | 0.200 | 17 | 43057062 | frameshift variant | -/G | delins | 1.8E-04 | 8 | ||
rs397507419 | 0.807 | 0.200 | 13 | 32379886 | frameshift variant | AAAA/-;AAA;AAAAA | delins | 4.0E-06 | 7 | ||
rs45553935 | 0.851 | 0.200 | 17 | 43057122 | missense variant | A/C;G;T | snv | 7 | |||
rs80356913 | 0.851 | 0.200 | 17 | 43106456 | missense variant | C/A;G;T | snv | 7 | |||
rs80356978 | 0.827 | 0.200 | 17 | 43092809 | stop gained | C/A;T | snv | 7 | |||
rs80357123 | 0.827 | 0.200 | 17 | 43057078 | stop gained | G/A;C;T | snv | 1.2E-05 | 7 | ||
rs80357914 | 0.827 | 0.200 | 17 | 43124028 | frameshift variant | CT/-;CTCT | delins | 7 | |||
rs80358044 | 0.827 | 0.200 | 17 | 43074330 | splice donor variant | C/A;G;T | snv | 7 | |||
rs80358981 | 0.827 | 0.200 | 13 | 32356550 | stop gained | C/T | snv | 2.0E-05 | 1.4E-05 | 7 | |
rs370228071 | 0.882 | 0.200 | 17 | 35103501 | missense variant | G/A;C | snv | 2.8E-05 | 2.1E-05 | 6 | |
rs397507758 | 0.807 | 0.200 | 13 | 32339456 | stop gained | C/T | snv | 6 | |||
rs41293455 | 0.827 | 0.200 | 17 | 43082434 | stop gained | G/A;C | snv | 2.4E-05; 3.2E-05 | 6 | ||
rs41293465 | 0.851 | 0.200 | 17 | 43045767 | stop gained | G/A | snv | 1.2E-05 | 6 | ||
rs587780021 | 0.851 | 0.200 | 2 | 214745842 | stop gained | G/A | snv | 2.4E-05 | 2.8E-05 | 6 | |
rs767796996 | 0.827 | 0.200 | 17 | 58695189 | stop gained | G/A;C | snv | 4.1E-06 | 6 | ||
rs80356885 | 0.827 | 0.200 | 17 | 43074482 | stop gained | C/T | snv | 6 |