Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs727505115 | 6 | 7572069 | splice donor variant | G/A;C | snv | 1 | |||||
rs730880093 | 6 | 7583655 | frameshift variant | A/- | del | 1 | |||||
rs869025398 | 6 | 7567451 | splice donor variant | T/G | snv | 1 | |||||
rs869025399 | 6 | 7582986 | frameshift variant | A/- | delins | 1 | |||||
rs879255521 | 6 | 7580193 | stop gained | C/T | snv | 4.0E-06 | 1 |