Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131690991 | 9 | 95469818 | frameshift variant | A/- | delins | 1 | |||||
rs1060502277 | 1.000 | 0.160 | 9 | 95476758 | splice donor variant | C/A;T | snv | 1 | |||
rs864622583 | 1.000 | 0.160 | 9 | 95506497 | frameshift variant | AACTTGCCGCAGTTTTTTTGAATGTAACAACCCAG/- | delins | 1 | |||
rs1060502271 | 1.000 | 0.160 | 9 | 95479149 | splice acceptor variant | T/A | snv | 1 | |||
rs1060502268 | 1.000 | 0.160 | 9 | 95476835 | missense variant | C/T | snv | 1 | |||
rs1564009755 | 1.000 | 0.160 | 9 | 95449902 | frameshift variant | C/- | delins | 1 | |||
rs1060502280 | 1.000 | 0.160 | 9 | 95485814 | frameshift variant | TA/- | delins | 1 | |||
rs1060502264 | 1.000 | 0.160 | 9 | 95449930 | frameshift variant | C/- | del | 1 | |||
rs1554698800 | 1.000 | 0.160 | 9 | 95478094 | frameshift variant | -/T | delins | 1 | |||
rs1060502287 | 1.000 | 0.160 | 9 | 95481987 | stop gained | C/T | snv | 1 | |||
rs864622293 | 1.000 | 0.160 | 9 | 95477546 | splice donor variant | C/G | snv | 1 | |||
rs767273237 | 1.000 | 0.160 | 9 | 95478080 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 | 1 | |
rs864622374 | 1.000 | 0.160 | 9 | 95478073 | frameshift variant | G/- | delins | 1 | |||
rs1060502286 | 1.000 | 0.160 | 9 | 95479006 | frameshift variant | AT/- | delins | 1 | |||
rs1554698613 | 1.000 | 0.160 | 9 | 95477680 | splice acceptor variant | TTAGACAGGCATAGGCGAGCTGCAAGCAGAACAATGG/- | delins | 1 | |||
rs1060502278 | 1.000 | 0.160 | 9 | 95458207 | stop gained | C/A | snv | 1 | |||
rs1064793922 | 1.000 | 0.160 | 9 | 95482198 | stop gained | C/A;T | snv | 1 | |||
rs1554708751 | 1.000 | 0.160 | 9 | 95506511 | frameshift variant | T/- | delins | 1 | |||
rs863224485 | 1.000 | 0.160 | 9 | 95459638 | frameshift variant | GGACCCAT/- | delins | 1 | |||
rs1554699216 | 1.000 | 0.160 | 9 | 95479079 | frameshift variant | -/A | delins | 1 | |||
rs1554708760 | 1.000 | 0.160 | 9 | 95506541 | frameshift variant | AA/- | del | 1 | |||
rs863224443 | 1.000 | 0.160 | 9 | 95449942 | splice acceptor variant | T/C | snv | 1 | |||
rs1057520590 | 1.000 | 0.160 | 9 | 95482204 | splice acceptor variant | C/G | snv | 1 | |||
rs751977093 | 1.000 | 0.160 | 9 | 95508248 | frameshift variant | CCC/-;CC;CCCC | delins | 1 | |||
rs1564058222 | 1.000 | 0.160 | 9 | 95482161 | frameshift variant | A/- | delins | 1 |