Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057521083 | 0.925 | 0.200 | 2 | 199348709 | missense variant | G/A | snv | 4 | |||
rs1553551705 | 1.000 | 2 | 199349065 | frameshift variant | GT/- | delins | 2 |