Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs201868078 | 0.925 | 0.040 | 20 | 63408524 | missense variant | G/A;C | snv | 1.6E-05 | 1 | ||
rs118192212 | 0.925 | 0.040 | 20 | 63439610 | inframe deletion | AAG/- | delins | 6 |