Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs5848 | 0.708 | 0.120 | 17 | 44352876 | 3 prime UTR variant | C/T | snv | 0.41 | 17 | ||
rs63751294 | 0.827 | 0.120 | 17 | 44352404 | stop gained | C/T | snv | 8.0E-06 | 6 | ||
rs63751243 | 0.882 | 0.160 | 17 | 44349190 | missense variant | C/A;T | snv | 4.0E-06 | 4 | ||
rs63749877 | 0.882 | 0.120 | 17 | 44351139 | frameshift variant | CACT/- | delins | 3 | |||
rs63751180 | 0.882 | 0.120 | 17 | 44352087 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 3 | ||
rs1392550887 | 0.925 | 17 | 44349241 | frameshift variant | -/C | delins | 2 | ||||
rs1555611412 | 0.925 | 17 | 44352339 | splice acceptor variant | A/G | snv | 2 | ||||
rs1567887496 | 0.925 | 17 | 44351607 | stop gained | C/T | snv | 2 | ||||
rs63749801 | 0.925 | 0.120 | 17 | 44350263 | frameshift variant | CAGT/- | delins | 7.0E-06 | 2 | ||
rs63749817 | 0.925 | 0.120 | 17 | 44350801 | splice donor variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 2 | ||
rs63750411 | 0.925 | 0.120 | 17 | 44349730 | stop gained | C/T | snv | 4.0E-06 | 2 | ||
rs63750548 | 0.925 | 17 | 44351035 | splice acceptor variant | A/G | snv | 2 | ||||
rs63750707 | 0.925 | 17 | 44351461 | splice donor variant | G/A | snv | 2 | ||||
rs63751035 | 0.925 | 0.120 | 17 | 44351081 | stop gained | TG/-;TGTG | delins | 2 | |||
rs63751085 | 0.925 | 0.120 | 17 | 44350767 | frameshift variant | CA/- | del | 2 | |||
rs63751296 | 0.925 | 17 | 44351362 | splice acceptor variant | G/C | snv | 2 | ||||
rs1555611256 | 1.000 | 17 | 44351430 | frameshift variant | G/- | delins | 1 | ||||
rs606231220 | 1.000 | 17 | 44349253 | frameshift variant | -/CCTG | delins | 1 | ||||
rs606231221 | 1.000 | 17 | 44351164 | splice donor variant | G/A | snv | 4.0E-06 | 1 | |||
rs63749905 | 1.000 | 17 | 44351759 | frameshift variant | -/A | delins | 1 | ||||
rs63750077 | 1.000 | 17 | 44350251 | stop gained | C/T | snv | 1 | ||||
rs63750331 | 1.000 | 17 | 44349167 | start lost | G/A | snv | 1 | ||||
rs63751006 | 1.000 | 17 | 44349166 | start lost | T/C | snv | 8.0E-06 | 1 |