Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs60458016 | 0.827 | 0.120 | 1 | 156136036 | stop gained | G/A;T | snv | 5 | |||
rs61444459 | 0.851 | 0.160 | 1 | 156137667 | missense variant | G/A;C | snv | 5 | |||
rs267607571 | 0.882 | 0.160 | 1 | 156134458 | missense variant | G/A;T | snv | 4 | |||
rs267607632 | 0.851 | 0.120 | 1 | 156134976 | splice donor variant | G/A;C | snv | 4 | |||
rs28933091 | 0.882 | 0.160 | 1 | 156134474 | missense variant | C/A;G | snv | 4 | |||
rs28940292 | 0.851 | 0.080 | 1 | 12011510 | missense variant | G/C | snv | 4 | |||
rs56816490 | 0.925 | 0.120 | 1 | 156135913 | stop gained | G/A;T | snv | 4 | |||
rs59885338 | 0.851 | 0.120 | 1 | 156135268 | missense variant | C/T | snv | 3.6E-05 | 2.8E-05 | 4 | |
rs773159585 | 0.882 | 0.080 | 1 | 11998877 | missense variant | C/T | snv | 8.0E-06 | 4 | ||
rs119103261 | 0.882 | 0.080 | 1 | 12002014 | missense variant | G/C | snv | 3 | |||
rs121912496 | 0.882 | 0.120 | 1 | 156134910 | missense variant | C/G;T | snv | 3 | |||
rs267607554 | 1.000 | 0.080 | 1 | 156135925 | stop gained | C/T | snv | 3 | |||
rs267607578 | 0.925 | 0.120 | 1 | 156136952 | missense variant | G/A;C | snv | 1.4E-05 | 3 | ||
rs28940293 | 0.882 | 0.080 | 1 | 11992606 | missense variant | T/C;G | snv | 8.0E-06 | 3 | ||
rs28940294 | 0.882 | 0.080 | 1 | 12001423 | missense variant | G/A | snv | 4.0E-06 | 3 | ||
rs397517889 | 0.925 | 0.120 | 1 | 156136093 | missense variant | C/T | snv | 7.0E-06 | 3 | ||
rs57508089 | 1.000 | 0.080 | 1 | 156136110 | synonymous variant | C/T | snv | 3 | |||
rs58013325 | 1.000 | 0.080 | 1 | 156137144 | frameshift variant | -/C | delins | 3 | |||
rs59684335 | 0.882 | 0.120 | 1 | 156135280 | frameshift variant | CT/- | delins | 3 | |||
rs59914820 | 0.925 | 0.160 | 1 | 156115000 | missense variant | C/G;T | snv | 3 | |||
rs864309525 | 0.925 | 0.120 | 1 | 156115007 | inframe deletion | GAG/- | delins | 3 | |||
rs1060502215 | 0.925 | 0.120 | 1 | 156115040 | missense variant | G/A;T | snv | 2 | |||
rs1553261891 | 0.925 | 0.120 | 1 | 156115012 | missense variant | A/G | snv | 2 | |||
rs1557522849 | 0.925 | 0.080 | 1 | 11997319 | missense variant | C/T | snv | 2 | |||
rs267607570 | 0.925 | 0.120 | 1 | 156130757 | missense variant | G/A;C | snv | 4.8E-05 | 2 |