Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs80357089 | 0.925 | 0.200 | 17 | 43092200 | stop gained | G/A | snv | 4.0E-04; 4.0E-06 | 2 | ||
| rs80357410 | 0.925 | 0.200 | 17 | 43124027 | missense variant | A/G | snv | 2.3E-04 | 2 | ||
| rs28897686 | 0.882 | 0.200 | 17 | 43091783 | stop gained | C/A;T | snv | 8.0E-06; 2.0E-04 | 4 | ||
| rs80357906 | 0.827 | 0.200 | 17 | 43057062 | frameshift variant | -/G | delins | 1.8E-04 | 7 | ||
| rs55914168 | 1.000 | 17 | 43093180 | stop gained | G/A;T | snv | 1.8E-04 | 3.5E-05 | 1 | ||
| rs80356923 | 0.882 | 0.200 | 17 | 43091891 | stop gained | C/A;T | snv | 9.9E-05 | 4 | ||
| rs80356991 | 0.882 | 0.200 | 17 | 43104136 | stop gained | C/A;G;T | snv | 8.4E-05 | 4 | ||
| rs80357902 | 0.882 | 0.200 | 17 | 43091882 | frameshift variant | -/T | delins | 4.0E-06; 8.4E-05; 4.0E-06 | 4 | ||
| rs55650082 | 0.925 | 0.200 | 17 | 43093742 | stop gained | C/A;T | snv | 8.0E-05 | 2 | ||
| rs387906563 | 0.882 | 0.200 | 17 | 43094706 | frameshift variant | -/GCTCCACATG | delins | 6.0E-05; 4.0E-06 | 4 | ||
| rs397509097 | 1.000 | 17 | 43091814 | frameshift variant | -/G | delins | 5.6E-05 | 1 | |||
| rs80357514 | 0.925 | 0.200 | 17 | 43094289 | frameshift variant | -/T | delins | 4.8E-05 | 2 | ||
| rs80356860 | 0.882 | 0.200 | 17 | 43063909 | missense variant | C/G;T | snv | 4.8E-05 | 3 | ||
| rs80357147 | 1.000 | 17 | 43093376 | stop gained | T/A;C | snv | 4.0E-05 | 1 | |||
| rs80357432 | 0.925 | 0.200 | 17 | 43057069 | stop gained | C/A;G;T | snv | 4.0E-06; 3.6E-05 | 2 | ||
| rs28897672 | 0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 | 9 | ||
| rs397507239 | 1.000 | 17 | 43067614 | stop gained | T/A;G | snv | 4.0E-06; 3.2E-05 | 1 | |||
| rs41293455 | 0.827 | 0.200 | 17 | 43082434 | stop gained | G/A;C | snv | 2.4E-05; 3.2E-05 | 6 | ||
| rs80356898 | 0.752 | 0.200 | 17 | 43093844 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 | 9 | ||
| rs80356915 | 0.925 | 0.200 | 17 | 43094198 | stop gained | C/A;G | snv | 2.8E-05 | 2 | ||
| rs80357948 | 0.925 | 0.200 | 17 | 43092918 | frameshift variant | -/A | ins | 2.8E-05 | 2 | ||
| rs28897696 | 0.807 | 0.200 | 17 | 43063903 | missense variant | G/A;C;T | snv | 2.8E-05; 4.0E-06; 2.0E-05 | 5 | ||
| rs80357202 | 0.851 | 0.080 | 17 | 43091477 | stop gained | C/A;G;T | snv | 2.4E-05 | 4 | ||
| rs55770810 | 0.763 | 0.280 | 17 | 43063931 | missense variant | G/A;T | snv | 2.4E-05; 8.0E-06 | 7 | ||
| rs41293459 | 0.763 | 0.280 | 17 | 43063930 | missense variant | C/A;G;T | snv | 2.4E-05 | 4 |