Source: CLINVAR ×
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs114638163 | 0.827 | 0.240 | 13 | 23805994 | stop gained | C/A;T | snv | 4.0E-06; 1.3E-03 | 10 | ||
| rs760187215 | 1.000 | 0.040 | 14 | 23431859 | missense variant | C/T | snv | 8.0E-06 | 6 | ||
| rs397516248 | 0.851 | 0.200 | 14 | 23415153 | missense variant | C/T | snv | 5 | |||
| rs606231324 | 0.851 | 0.080 | 14 | 23428505 | missense variant | C/G;T | snv | 5 | |||
| rs587782927 | 0.882 | 0.080 | 6 | 7574084 | splice region variant | AG/- | delins | 4 |