Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs77238412 | 4 | 73408735 | stop gained | C/G;T | snv | 4.0E-06 | 1 | ||||
rs77335374 | 4 | 73411994 | splice acceptor variant | A/G;T | snv | 1 | |||||
rs77449454 | 4 | 73413444 | frameshift variant | -/A | delins | 1 |