Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs386134243 | 0.708 | 0.360 | 1 | 156135967 | missense variant | C/A;T | snv | 4.0E-06 | 16 | ||
| rs1553265736 | 0.925 | 0.040 | 1 | 156136080 | missense variant | G/C | snv | 4 | |||
| rs267607581 | 0.925 | 0.080 | 1 | 156137651 | splice region variant | C/G | snv | 4 | |||
| rs28933091 | 0.882 | 0.160 | 1 | 156134474 | missense variant | C/A;G | snv | 4 | |||
| rs58596362 | 0.827 | 0.280 | 1 | 156138613 | splice region variant | C/A;T | snv | 8.1E-06 | 4 | ||
| rs60682848 | 0.790 | 0.200 | 1 | 156134838 | stop gained | C/T | snv | 7.0E-06 | 4 | ||
| rs267607578 | 0.925 | 0.120 | 1 | 156136952 | missense variant | G/A;C | snv | 1.4E-05 | 3 | ||
| rs28933093 | 0.882 | 0.160 | 1 | 156130741 | missense variant | G/A | snv | 3 | |||
| rs397517889 | 0.925 | 0.120 | 1 | 156136093 | missense variant | C/T | snv | 7.0E-06 | 3 | ||
| rs397517906 | 0.925 | 0.080 | 1 | 156134890 | missense variant | C/T | snv | 8.0E-06 | 3 | ||
| rs56816490 | 0.925 | 0.120 | 1 | 156135913 | stop gained | G/A;T | snv | 3 | |||
| rs56984562 | 0.827 | 0.200 | 1 | 156137666 | missense variant | C/A;G;T | snv | 3 | |||
| rs57508089 | 1.000 | 0.080 | 1 | 156136110 | synonymous variant | C/T | snv | 3 | |||
| rs61195471 | 0.827 | 0.160 | 1 | 156134496 | missense variant | G/A | snv | 3 | |||
| rs794728602 | 1.000 | 0.040 | 1 | 156115168 | missense variant | G/A | snv | 3 | |||
| rs267607554 | 1.000 | 0.080 | 1 | 156135925 | stop gained | C/T | snv | 2 | |||
| rs267607573 | 1.000 | 0.080 | 1 | 156134865 | stop gained | C/T | snv | 2 | |||
| rs267607577 | 1 | 156136352 | frameshift variant | GCACGCAC/-;GCACGCACGCAC | delins | 2 | |||||
| rs267607618 | 1.000 | 0.080 | 1 | 156136350 | stop gained | C/T | snv | 2 | |||
| rs267607646 | 1.000 | 0.080 | 1 | 156115265 | frameshift variant | -/G | delins | 2 | |||
| rs28933092 | 1.000 | 0.040 | 1 | 156134497 | missense variant | A/G;T | snv | 2 | |||
| rs397517888 | 1.000 | 0.080 | 1 | 156136074 | frameshift variant | -/TGGA | delins | 2 | |||
| rs58013325 | 1.000 | 0.080 | 1 | 156137144 | frameshift variant | -/C | delins | 2 | |||
| rs59026483 | 0.827 | 0.160 | 1 | 156134457 | missense variant | C/T | snv | 7.0E-06 | 2 | ||
| rs59270054 | 0.925 | 0.120 | 1 | 156115162 | missense variant | G/A;C | snv | 2 |