Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs386134243 | 0.708 | 0.360 | 1 | 156135967 | missense variant | C/A;T | snv | 4.0E-06 | 16 | ||
rs45586240 | 0.827 | 0.080 | 1 | 201361989 | missense variant | G/A;T | snv | 4.0E-06 | 5 | ||
rs74315379 | 0.827 | 0.080 | 1 | 201364336 | missense variant | G/A;T | snv | 1.2E-04 | 5 | ||
rs1553265736 | 0.925 | 0.040 | 1 | 156136080 | missense variant | G/C | snv | 4 | |||
rs267607581 | 0.925 | 0.080 | 1 | 156137651 | splice region variant | C/G | snv | 4 | |||
rs28933091 | 0.882 | 0.160 | 1 | 156134474 | missense variant | C/A;G | snv | 4 | |||
rs397516471 | 0.882 | 0.080 | 1 | 201363348 | missense variant | C/T | snv | 4 | |||
rs45578238 | 0.882 | 0.080 | 1 | 201361971 | inframe deletion | CTT/- | delins | 4 | |||
rs58596362 | 0.827 | 0.280 | 1 | 156138613 | splice region variant | C/A;T | snv | 8.1E-06 | 4 | ||
rs60682848 | 0.790 | 0.200 | 1 | 156134838 | stop gained | C/T | snv | 7.0E-06 | 4 | ||
rs727503512 | 0.851 | 0.080 | 1 | 201363349 | missense variant | G/A;C;T | snv | 4.0E-06 | 4 | ||
rs74315380 | 0.851 | 0.080 | 1 | 201364366 | missense variant | G/A;C | snv | 4 | |||
rs137853197 | 0.925 | 0.040 | 1 | 77942756 | missense variant | A/G | snv | 7.2E-05 | 1.0E-04 | 3 | |
rs267607578 | 0.925 | 0.120 | 1 | 156136952 | missense variant | G/A;C | snv | 1.4E-05 | 3 | ||
rs28933093 | 0.882 | 0.160 | 1 | 156130741 | missense variant | G/A | snv | 3 | |||
rs397517889 | 0.925 | 0.120 | 1 | 156136093 | missense variant | C/T | snv | 7.0E-06 | 3 | ||
rs397517906 | 0.925 | 0.080 | 1 | 156134890 | missense variant | C/T | snv | 8.0E-06 | 3 | ||
rs56816490 | 0.925 | 0.120 | 1 | 156135913 | stop gained | G/A;T | snv | 3 | |||
rs56984562 | 0.827 | 0.200 | 1 | 156137666 | missense variant | C/A;G;T | snv | 3 | |||
rs57508089 | 1.000 | 0.080 | 1 | 156136110 | synonymous variant | C/T | snv | 3 | |||
rs61195471 | 0.827 | 0.160 | 1 | 156134496 | missense variant | G/A | snv | 3 | |||
rs727502886 | 0.925 | 0.040 | 1 | 236719007 | missense variant | G/A | snv | 3 | |||
rs794728602 | 1.000 | 0.040 | 1 | 156115168 | missense variant | G/A | snv | 3 | |||
rs267607554 | 1.000 | 0.080 | 1 | 156135925 | stop gained | C/T | snv | 2 | |||
rs267607573 | 1.000 | 0.080 | 1 | 156134865 | stop gained | C/T | snv | 2 |