Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397516252 | 14 | 23413832 | missense variant | G/C | snv | 1 | |||||
rs869025483 | 14 | 23413805 | protein altering variant | GACT/A | delins | 1 |