Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913237 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 50 | ||
rs397509400 | 0.925 | 16 | 13935414 | splice donor variant | CTCAA/- | delins | 2 | ||||
rs1085307885 | 0.925 | 0.120 | 17 | 31338808 | splice region variant | A/G | snv | 2 | |||
rs1372169495 | 1.000 | 6 | 106086585 | missense variant | G/A;C | snv | 6.3E-06; 6.3E-06 | 1 | |||
rs776155094 | 1.000 | 11 | 32435210 | frameshift variant | C/- | del | 7.6E-06 | 2.8E-05 | 1 |