Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||
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 | |||
rs397516373 | 0.925 | 0.080 | 15 | 63059663 | missense variant | G/A | snv | 4 | |||
rs397516471 | 0.882 | 0.080 | 1 | 201363348 | missense variant | C/T | snv | 4 | |||
rs397516706 | 0.925 | 0.080 | 18 | 31546441 | frameshift variant | AGAG/-;AG | delins | 4 | |||
rs397516943 | 0.882 | 0.120 | 6 | 7559281 | stop gained | C/G;T | snv | 8.0E-06 | 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 | ||
rs587782927 | 0.882 | 0.080 | 6 | 7574084 | splice region variant | AG/- | delins | 4 | |||
rs72648250 | 0.882 | 0.160 | 2 | 178548460 | stop gained | G/A;T | snv | 4.0E-06; 8.1E-06 | 4 | ||
rs727503512 | 0.851 | 0.080 | 1 | 201363349 | missense variant | G/A;C;T | snv | 4.0E-06 | 4 | ||
rs727503607 | 0.882 | 0.160 | 2 | 178605642 | stop gained | C/A | snv | 4 | |||
rs727505319 | 0.925 | 0.160 | 2 | 178542263 | splice donor variant | C/G;T | snv | 4.2E-06 | 4 | ||
rs74315380 | 0.851 | 0.080 | 1 | 201364366 | missense variant | G/A;C | snv | 4 | |||
rs869248137 | 0.882 | 0.120 | 10 | 119676479 | stop gained | C/A;T | snv | 4.0E-06 | 4 | ||
rs111033559 | 0.925 | 0.040 | 6 | 118558946 | missense variant | C/T | snv | 3 | |||
rs112188483 | 0.925 | 0.160 | 2 | 178528273 | splice donor variant | C/G;T | snv | 1.2E-05 | 3 | ||
rs121912997 | 0.925 | 0.160 | 6 | 7579989 | stop gained | C/G;T | snv | 3 | |||
rs121913627 | 0.851 | 0.080 | 14 | 23427657 | missense variant | C/A;G;T | snv | 4.0E-06 | 3 | ||
rs121913630 | 0.851 | 0.080 | 14 | 23425814 | missense variant | G/A;C | snv | 1.2E-05 | 3 | ||
rs121913642 | 0.925 | 0.080 | 14 | 23427879 | missense variant | A/G | snv | 3 | |||
rs121913647 | 0.925 | 0.160 | 14 | 23417173 | missense variant | C/A;G;T | snv | 1.6E-05 | 3 | ||
rs150974575 | 1.000 | 0.160 | 2 | 219423817 | stop gained | C/T | snv | 1.2E-05 | 3 |