Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs80356682 | 0.790 | 0.120 | 1 | 209625721 | stop gained | G/A | snv | 5.1E-04 | 4.8E-04 | 7 | |
rs1186161867 | 0.882 | 0.080 | 1 | 209628034 | splice donor variant | C/A;T | snv | 1.4E-05 | 3 | ||
rs772038362 | 0.882 | 0.200 | 18 | 23939301 | stop gained | C/T | snv | 1.2E-05 | 7.0E-06 | 3 | |
rs774174881 | 0.882 | 0.080 | 1 | 209629852 | stop gained | A/C | snv | 4.0E-06 | 3 | ||
rs80356680 | 0.882 | 0.080 | 1 | 209650023 | stop gained | G/A | snv | 5.6E-05 | 6.3E-05 | 3 | |
rs118203901 | 0.925 | 0.080 | 1 | 183222181 | stop gained | C/T | snv | 2.1E-05 | 2 | ||
rs1217053724 | 0.925 | 0.080 | 1 | 183243272 | stop gained | C/T | snv | 7.0E-06 | 2 | ||
rs769967565 | 0.925 | 0.080 | 1 | 209627502 | frameshift variant | TG/- | del | 2.0E-05 | 3.5E-05 | 2 | |
rs772421306 | 0.925 | 0.080 | 1 | 209618519 | frameshift variant | C/- | delins | 1.6E-05 | 1.4E-05 | 2 |