Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs147718607 | 0.925 | 0.160 | 19 | 48303953 | missense variant | C/T | snv | 2.4E-04 | 2.2E-04 | 3 | |
rs201133219 | 1.000 | 19 | 48297995 | splice region variant | C/T | snv | 8.0E-05 | 7.0E-05 | 2 | ||
rs606231238 | 1.000 | 19 | 48311552 | splice donor variant | C/T | snv | 1.9E-05; 6.4E-06 | 2.8E-05 | 1 | ||
rs606231239 | 1.000 | 19 | 48306325 | splice acceptor variant | T/C | snv | 1.9E-05 | 2.8E-05 | 1 | ||
rs606231240 | 1.000 | 19 | 48303034 | frameshift variant | A/- | del | 2.0E-05 | 7.0E-06 | 1 |