Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1559051231 | 2 | 178535728 | stop gained | C/T | snv | 1 | |||||
rs1559192617 | 2 | 178550977 | frameshift variant | CTTGTCATAAT/- | delins | 1 | |||||
rs1559262463 | 2 | 178558000 | frameshift variant | A/- | del | 1 | |||||
rs1559448864 | 2 | 178575386 | frameshift variant | -/A | delins | 1 | |||||
rs1559469421 | 2 | 178577230 | frameshift variant | -/A | delins | 1 | |||||
rs1559556267 | 2 | 178588040 | frameshift variant | CTGCA/- | del | 1 | |||||
rs1559712733 | 2 | 178604300 | splice acceptor variant | CCAGATCTAGAAATTAGA/AG | delins | 1 | |||||
rs1559746821 | 2 | 178608282 | stop gained | A/T | snv | 1 | |||||
rs1559873786 | 2 | 178620846 | frameshift variant | GATGTAT/- | delins | 1 | |||||
rs1561323791 | 2 | 178779110 | stop gained | C/T | snv | 1 | |||||
rs1561445221 | 2 | 178792176 | frameshift variant | T/- | delins | 1 | |||||
rs1561686893 | 6 | 7567372 | stop gained | C/T | snv | 1 | |||||
rs1561690319 | 6 | 7571506 | stop gained | C/T | snv | 1 | |||||
rs1561698714 | 6 | 7580519 | frameshift variant | -/A | delins | 1 | |||||
rs1561701721 | 6 | 7583201 | frameshift variant | -/C | delins | 1 | |||||
rs1561702549 | 6 | 7583725 | frameshift variant | G/CT | delins | 1 | |||||
rs1564526327 | 10 | 74083453 | frameshift variant | T/- | delins | 1 | |||||
rs1565050709 | 11 | 19186268 | frameshift variant | G/- | delins | 1 | |||||
rs1565477732 | 12 | 21912871 | splice donor variant | C/T | snv | 1 | |||||
rs1565590176 | 12 | 32850767 | splice region variant | T/A | snv | 1 | |||||
rs1565590309 | 12 | 32850910 | stop gained | G/A | snv | 1 | |||||
rs1565623093 | 11 | 47333209 | frameshift variant | G/- | delins | 1 | |||||
rs1565623439 | 11 | 47333627 | frameshift variant | TGAAT/- | del | 1 | |||||
rs1565623713 | 11 | 47333996 | frameshift variant | -/A | delins | 1 | |||||
rs1565626367 | 11 | 47339656 | frameshift variant | -/ATAG | delins | 1 |