Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1563452941 | 0.882 | 0.120 | 8 | 42437137 | stop gained | C/A | snv | 13 | |||
rs751093906 | 0.882 | 0.200 | 8 | 42472255 | stop gained | G/A;C | snv | 4.0E-06 | 8 | ||
rs387906653 | 0.882 | 0.120 | 8 | 42428829 | stop gained | C/A;T | snv | 7 | |||
rs1273642311 | 0.925 | 0.120 | 14 | 39320963 | missense variant | C/G | snv | 7.0E-06 | 2 | ||
rs36060072 | 0.925 | 0.120 | 14 | 39320945 | missense variant | C/G;T | snv | 4.7E-03; 6.0E-05 | 2 | ||
rs745607430 | 0.925 | 0.120 | 8 | 32764088 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 2 | ||
rs387906652 | 0.925 | 0.080 | 8 | 42417960 | missense variant | G/A;C | snv | 4.0E-06 | 2 | ||
rs1357615935 | 1.000 | 0.080 | 8 | 42437211 | missense variant | G/C | snv | 1 | |||
rs1388992742 | 1.000 | 0.080 | 8 | 42428841 | missense variant | C/T | snv | 1 | |||
rs1554561099 | 1.000 | 0.080 | 8 | 42472309 | missense variant | C/T | snv | 1 | |||
rs1563431044 | 1.000 | 0.080 | 8 | 42417968 | splice acceptor variant | C/T | snv | 1 | |||
rs1563452322 | 1.000 | 0.080 | 8 | 42436991 | frameshift variant | AC/- | delins | 1 | |||
rs1563453866 | 1.000 | 0.080 | 8 | 42437316 | missense variant | T/G | snv | 1 | |||
rs1563490467 | 1.000 | 0.080 | 8 | 42465904 | frameshift variant | C/- | delins | 1 | |||
rs1563497714 | 1.000 | 0.080 | 8 | 42472203 | missense variant | C/T | snv | 1 | |||
rs1563497719 | 1.000 | 0.080 | 8 | 42472204 | missense variant | C/T | snv | 1 | |||
rs1563498184 | 1.000 | 0.080 | 8 | 42472370 | frameshift variant | C/- | del | 1 | |||
rs200010919 | 1.000 | 0.080 | 8 | 42437367 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 1 | |
rs201836672 | 1.000 | 0.080 | 8 | 42472360 | missense variant | T/A;G | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs387906654 | 1.000 | 0.080 | 8 | 42428768 | missense variant | G/A | snv | 1 | |||
rs398122395 | 1.000 | 0.080 | 8 | 42463012 | frameshift variant | A/- | delins | 1 | |||
rs398122396 | 1.000 | 0.080 | 8 | 42417931 | frameshift variant | GGAG/- | delins | 1 | |||
rs398122397 | 1.000 | 0.080 | 8 | 42459925 | frameshift variant | CA/- | delins | 1 | |||
rs748252183 | 1.000 | 0.080 | 8 | 42459928 | missense variant | T/C | snv | 8.0E-06 | 1.4E-05 | 1 | |
rs763252801 | 1.000 | 0.080 | 8 | 42430070 | missense variant | G/A | snv | 1.2E-05 | 1 |