Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1237955948 | 1.000 | 0.120 | 21 | 42382235 | splice acceptor variant | C/A;T | snv | 8.0E-06 | 2 | ||
| rs1429442821 | 1.000 | 0.120 | 21 | 42380116 | splice donor variant | C/T | snv | 2 | |||
| rs181949335 | 0.925 | 0.120 | 21 | 42382101 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 1 |