Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs137854539 | 0.716 | 0.520 | 20 | 58903703 | missense variant | C/T | snv | 27 | |||
rs1057518907 | 0.732 | 0.320 | 20 | 58891811 | stop gained | C/G;T | snv | 16 |