Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs879255522 | 0.925 | 0.120 | 12 | 119822819 | splice donor variant | C/T | snv | 3 | |||
rs879255523 | 1.000 | 0.120 | 12 | 119857525 | stop gained | G/A | snv | 7.0E-06 | 2 | ||
rs879255524 | 1.000 | 0.120 | 12 | 119850217 | missense variant | G/C | snv | 2 |