Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1278244243 | 0.925 | 0.120 | 9 | 69225409 | splice donor variant | T/C | snv | 1.2E-05 | 2 | ||
rs1057518679 | 1.000 | 0.120 | 9 | 69227794 | frameshift variant | T/- | delins | 1 | |||
rs1060499649 | 1.000 | 0.120 | 9 | 69226175 | missense variant | G/A | snv | 8.0E-06 | 1 | ||
rs1554660803 | 1.000 | 0.120 | 9 | 69221354 | frameshift variant | CG/- | delins | 1 | |||
rs1554669525 | 1.000 | 0.120 | 9 | 69254206 | splice region variant | TTCCAGACCCCCTGAGCCACAGAAAGCTCCTTCCAGACCTTATCAGGATACCAGAGGAAGTTATGGCAGTGATGCCGAGGAGGAGGAGTACCGCCAGCAGCTGTCAGAACACTCCAAGCGCGGTTACTATGGCCAGTCTGCCCGATACCGGGACACAGAATTATAG/- | delins | 1 | |||
rs587777518 | 1.000 | 0.120 | 9 | 69221310 | frameshift variant | GCCT/- | del | 1 | |||
rs587777519 | 1.000 | 0.120 | 9 | 69221426 | frameshift variant | C/- | delins | 1 | |||
rs587777520 | 1.000 | 0.120 | 9 | 69228022 | frameshift variant | C/- | del | 1 | |||
rs587777521 | 1.000 | 0.120 | 9 | 69236947 | splice acceptor variant | A/G | snv | 1 | |||
rs776869985 | 1.000 | 0.120 | 9 | 69240013 | frameshift variant | T/-;TT | delins | 4.0E-06 | 7.0E-06 | 1 | |
rs864321695 | 1.000 | 0.120 | 9 | 69248011 | splice acceptor variant | G/T | snv | 1 | |||
rs864321697 | 1.000 | 0.120 | 9 | 69221358 | frameshift variant | G/- | delins | 1 | |||
rs886041948 | 1.000 | 0.120 | 9 | 69221112 | frameshift variant | -/CCTCA | delins | 1 |