Source: CLINVAR ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs80359200 | 0.752 | 0.320 | 13 | 32394726 | stop gained | C/A;G | snv | 8.0E-06 | 12 | ||
rs80357522 | 0.776 | 0.280 | 17 | 43093570 | frameshift variant | TTTT/-;TT;TTT;TTTTT | delins | 7.0E-06 | 10 | ||
rs80359604 | 0.763 | 0.320 | 13 | 32329468 | frameshift variant | GT/- | delins | 10 | |||
rs28897672 | 0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 | 9 | ||
rs80356898 | 0.752 | 0.200 | 17 | 43093844 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 | 9 | ||
rs45580035 | 0.790 | 0.240 | 13 | 32380043 | missense variant | C/T | 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 | |
rs397507419 | 0.807 | 0.200 | 13 | 32379886 | frameshift variant | AAAA/-;AAA;AAAAA | delins | 4.0E-06 | 7 | ||
rs55770810 | 0.763 | 0.280 | 17 | 43063931 | missense variant | G/A;T | snv | 2.4E-05; 8.0E-06 | 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 | ||
rs80357382 | 0.763 | 0.240 | 17 | 43106457 | missense variant | T/C | snv | 4.0E-06 | 7 | ||
rs80357906 | 0.827 | 0.200 | 17 | 43057062 | frameshift variant | -/G | delins | 1.8E-04 | 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 | |
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 | ||
rs62625307 | 0.827 | 0.200 | 17 | 43091933 | stop gained | G/A | snv | 4.0E-06 | 6 | ||
rs62625308 | 0.851 | 0.200 | 17 | 43091924 | stop gained | G/A;C | snv | 1.2E-05 | 6 | ||
rs80356885 | 0.827 | 0.200 | 17 | 43074482 | stop gained | C/T | snv | 6 | |||
rs80357440 | 0.827 | 0.200 | 17 | 43091638 | stop gained | G/A;C;T | snv | 4.0E-06 | 6 | ||
rs80357446 | 0.827 | 0.200 | 17 | 43115729 | missense variant | C/A;T | snv | 6 | |||
rs80357475 | 0.827 | 0.200 | 17 | 43124094 | start lost | C/A;G;T | snv | 6 | |||
rs80357783 | 0.851 | 0.200 | 17 | 43124030 | frameshift variant | -/T | delins | 4.0E-06 | 6 |