Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1114167445 | 0.851 | 0.160 | 19 | 40504064 | stop gained | C/T | snv | 8.0E-06 | 15 | ||
| rs1555721549 | 1.000 | 19 | 40572151 | frameshift variant | G/- | delins | 1 | ||||
| rs1555818396 | 1.000 | 19 | 40523602 | stop gained | G/T | snv | 1 | ||||
| rs765087147 | 1.000 | 19 | 40503978 | missense variant | G/A | snv | 7.2E-05 | 7.0E-06 | 1 | ||
| rs777273785 | 1.000 | 19 | 40570712 | missense variant | C/A;T | snv | 8.7E-06; 1.0E-04 | 1 |