Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs387907009 | 0.882 | 0.200 | 3 | 121790166 | stop gained | C/A | snv | 1.2E-05 | 3 | ||
rs1553722736 | 1.000 | 0.040 | 3 | 121828473 | stop gained | A/C | snv | 1 | |||
rs201405662 | 1.000 | 0.040 | 3 | 121828519 | stop gained | G/A;C | snv | 3.6E-05; 8.0E-06 | 1 | ||
rs750962965 | 0.882 | 0.200 | 3 | 121808978 | frameshift variant | AA/- | delins | 1.0E-04 | 1.4E-04 | 3 |