Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057516034 | 0.925 | 0.120 | 5 | 37052453 | stop gained | C/T | snv | 5 | |||
rs1554034812 | 0.925 | 0.240 | 5 | 37058938 | frameshift variant | G/- | delins | 3 |