Source: CLINVAR ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs587783446 | 0.763 | 0.280 | 8 | 60850546 | stop gained | C/T | snv | 19 | |||
rs886039902 | 0.851 | 0.360 | 16 | 89284130 | frameshift variant | TTTTT/-;T;TTTT | delins | 6 |