Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1554616950 | 1.000 | 0.080 | 8 | 115414768 | frameshift variant | G/- | delins | 1 | |||
rs1554616971 | 1.000 | 0.080 | 8 | 115414831 | frameshift variant | C/- | del | 1 | |||
rs1554617011 | 1.000 | 0.080 | 8 | 115414924 | frameshift variant | CTCT/- | delins | 1 | |||
rs1554617078 | 1.000 | 0.080 | 8 | 115415048 | frameshift variant | -/GTTTTGTT | delins | 1 | |||
rs1554617549 | 1.000 | 0.080 | 8 | 115418329 | splice donor variant | C/A | snv | 1 | |||
rs1554617561 | 1.000 | 0.080 | 8 | 115418352 | missense variant | C/A | snv | 1 | |||
rs1554617567 | 1.000 | 0.080 | 8 | 115418369 | frameshift variant | -/G | ins | 1 | |||
rs1554617573 | 1.000 | 0.080 | 8 | 115418397 | missense variant | A/G | snv | 1 | |||
rs1554617580 | 1.000 | 0.080 | 8 | 115418421 | missense variant | T/C | snv | 1 | |||
rs1554617581 | 1.000 | 0.080 | 8 | 115418422 | missense variant | T/A | snv | 1 | |||
rs1554617582 | 0.925 | 0.080 | 8 | 115418427 | frameshift variant | -/A | delins | 6 | |||
rs1563623987 | 0.925 | 0.160 | 8 | 115587133 | stop gained | A/C | snv | 2 | |||
rs1563637033 | 0.925 | 0.160 | 8 | 115604264 | frameshift variant | ATGGAGCTGTT/- | delins | 2 | |||
rs1563638577 | 0.925 | 0.160 | 8 | 115604951 | frameshift variant | -/GCAA | delins | 2 | |||
rs1563714392 | 1.000 | 0.080 | 8 | 115415008 | frameshift variant | -/AAGGCGCT | delins | 1 | |||
rs28939069 | 0.925 | 0.160 | 8 | 115415015 | missense variant | G/A | snv | 2 | |||
rs28939070 | 0.925 | 0.160 | 8 | 115415014 | missense variant | C/T | snv | 2 | |||
rs368166434 | 0.851 | 0.200 | 8 | 115603883 | stop gained | G/A;C | snv | 2 | |||
rs751565386 | 0.925 | 0.160 | 8 | 115418392 | stop gained | G/A;T | snv | 8.0E-06 | 2 | ||
rs752405769 | 1.000 | 0.080 | 8 | 115415107 | intron variant | A/C;G | snv | 4.7E-06 | 1 | ||
rs864621974 | 1.000 | 0.080 | 8 | 115604276 | stop gained | G/A | snv | 1 | |||
rs886040971 | 0.683 | 0.280 | 8 | 115604339 | stop gained | G/A;T | snv | 56 |