Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs137853294 | 0.827 | 0.200 | 13 | 48459708 | missense variant | C/T | snv | 1.6E-05 | 6 | ||
rs587776783 | 0.851 | 0.200 | 13 | 48373493 | splice donor variant | G/A | snv | 5 |