Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1554108431 | 0.882 | 0.120 | 6 | 7581189 | stop gained | C/T | snv | 4 | |||
rs397516943 | 0.882 | 0.120 | 6 | 7559281 | stop gained | C/G;T | snv | 8.0E-06 | 4 | ||
rs587782927 | 0.882 | 0.080 | 6 | 7574084 | splice region variant | AG/- | delins | 4 | |||
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 | |||
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 | ||
rs397516089 | 0.827 | 0.080 | 14 | 23429807 | missense variant | C/G;T | snv | 4 | |||
rs397516165 | 0.925 | 0.080 | 14 | 23424118 | missense variant | C/G;T | snv | 4 | |||
rs143139258 | 0.882 | 0.080 | 12 | 110913097 | missense variant | T/G | snv | 2.0E-04 | 2.9E-04 | 4 | |
rs1554093433 | 0.925 | 0.080 | 5 | 173232833 | stop gained | G/T | snv | 4 | |||
rs1114167453 | 1.000 | 19 | 45385569 | stop gained | G/C | snv | 4 | ||||
rs267607004 | 0.925 | 0.040 | 10 | 110812304 | missense variant | G/A | snv | 1.4E-05 | 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 | |||
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 | |||
rs199476317 | 0.827 | 0.080 | 15 | 63062263 | missense variant | G/A | snv | 4 | |||
rs397516373 | 0.925 | 0.080 | 15 | 63059663 | missense variant | G/A | snv | 4 | |||
rs1553707780 | 0.925 | 0.040 | 2 | 178616928 | frameshift variant | T/- | del | 4 | |||
rs72648250 | 0.882 | 0.160 | 2 | 178548460 | stop gained | G/A;T | snv | 4.0E-06; 8.1E-06 | 4 | ||
rs727503607 | 0.882 | 0.160 | 2 | 178605642 | stop gained | C/A | snv | 4 | |||
rs397517735 | 0.925 | 0.160 | 2 | 178559309 | splice donor variant | A/T | snv | 4.4E-06 | 4.9E-05 | 4 | |
rs72646846 | 0.925 | 0.160 | 2 | 178589849 | stop gained | G/A | snv | 7.6E-05 | 6.3E-05 | 4 |