Source: CURATED
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1135401733 | 1.000 | 0.040 | 1 | 244856757 | stop gained | G/A | snv | 3 | |||
rs1135401732 | 1.000 | 0.040 | 1 | 244859303 | stop gained | C/A;G;T | snv | 4.0E-06 | 1 | ||
rs779453109 | 1.000 | 0.040 | 1 | 244863648 | frameshift variant | GCCTTCCGCC/- | delins | 1.2E-05 | 2.8E-05 | 1 | |
rs1135401734 | 1.000 | 0.040 | 1 | 244855505 | frameshift variant | AG/- | del | 1 |