Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs80357522 | 0.776 | 0.280 | 17 | 43093570 | frameshift variant | TTTT/-;TT;TTT;TTTTT | delins | 7.0E-06 | 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 | ||
| rs80356962 | 0.807 | 0.200 | 17 | 43047666 | stop gained | C/G;T | snv | 4.0E-06 | 7.0E-06 | 8 | |
| 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 | |||
| rs41293465 | 0.851 | 0.200 | 17 | 43045767 | stop gained | G/A | snv | 1.2E-05 | 6 | ||
| rs62625308 | 0.851 | 0.200 | 17 | 43091924 | stop gained | G/A;C | snv | 1.2E-05 | 6 | ||
| rs80357783 | 0.851 | 0.200 | 17 | 43124030 | frameshift variant | -/T | delins | 4.0E-06 | 6 | ||
| rs28897696 | 0.807 | 0.200 | 17 | 43063903 | missense variant | G/A;C;T | snv | 2.8E-05; 4.0E-06; 2.0E-05 | 5 | ||
| rs80357433 | 0.851 | 0.200 | 17 | 43071225 | stop gained | G/A;C | snv | 4.0E-06 | 1.4E-05 | 5 | |
| rs80357481 | 0.882 | 0.200 | 17 | 43094317 | stop gained | G/C;T | snv | 5 | |||
| rs80357609 | 0.851 | 0.200 | 17 | 43091827 | frameshift variant | TTTAC/- | delins | 5 | |||
| rs80357868 | 0.851 | 0.200 | 17 | 43091772 | frameshift variant | GACA/- | delins | 1.4E-05 | 5 | ||
| rs80359876 | 0.851 | 0.200 | 17 | 43070932 | frameshift variant | TCTTCTGGGGTCAGGCCAG/- | del | 5 | |||
| rs273901746 | 0.882 | 0.200 | 17 | 43063375 | splice acceptor variant | T/- | del | 4 | |||
| rs41293459 | 0.763 | 0.280 | 17 | 43063930 | missense variant | C/A;G;T | snv | 2.4E-05 | 4 | ||
| rs80187739 | 0.851 | 0.200 | 17 | 43067608 | missense variant | C/A;G;T | snv | 1.2E-05 | 4 | ||
| rs80356913 | 0.851 | 0.200 | 17 | 43106456 | missense variant | C/A;G;T | snv | 4 | |||
| rs80356945 | 0.882 | 0.200 | 17 | 43093193 | stop gained | G/A;C;T | snv | 4.0E-06 | 4 | ||
| rs80356953 | 0.851 | 0.200 | 17 | 43074519 | stop gained | G/C;T | snv | 4 | |||
| rs80356989 | 0.882 | 0.200 | 17 | 43082539 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 4 | |
| rs80357234 | 0.882 | 0.200 | 17 | 43104949 | stop gained | G/A;T | snv | 4 | |||
| rs80357468 | 0.882 | 0.200 | 17 | 43094415 | stop gained | C/T | snv | 4 | |||
| rs80357516 | 0.882 | 0.200 | 17 | 43093653 | frameshift variant | -/ACTA | delins | 4 |