Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs147067171 | 0.925 | 0.080 | 9 | 95447309 | missense variant | T/C | snv | 5.5E-04 | 5.0E-04 | 2 | |
rs372027952 | 1.000 | 0.080 | 9 | 95447367 | missense variant | G/A | snv | 3.2E-05 | 4.2E-05 | 1 | |
rs1554689667 | 1.000 | 0.160 | 9 | 95449847 | frameshift variant | ATAT/GGA | delins | 1 | |||
rs1131690985 | 0.925 | 0.200 | 9 | 95449891 | missense variant | C/T | snv | 1 | |||
rs1564009755 | 1.000 | 0.160 | 9 | 95449902 | frameshift variant | C/- | delins | 1 | |||
rs1060502264 | 1.000 | 0.160 | 9 | 95449930 | frameshift variant | C/- | del | 1 | |||
rs1131690976 | 9 | 95449931 | frameshift variant | A/- | delins | 1 | |||||
rs1131691001 | 9 | 95449940 | splice acceptor variant | C/- | delins | 1 | |||||
rs863224443 | 1.000 | 0.160 | 9 | 95449942 | splice acceptor variant | T/C | snv | 1 | |||
rs863224442 | 1.000 | 0.160 | 9 | 95453477 | splice donor variant | C/T | snv | 1 | |||
rs1131690990 | 9 | 95453487 | missense variant | A/G | snv | 1 | |||||
rs1554690411 | 1.000 | 0.160 | 9 | 95453498 | frameshift variant | GA/- | delins | 1 | |||
rs1131690989 | 9 | 95453523 | missense variant | A/G | snv | 1 | |||||
rs878853856 | 1.000 | 0.160 | 9 | 95453533 | missense variant | A/G | snv | 1 | |||
rs1060502273 | 1.000 | 0.160 | 9 | 95453562 | frameshift variant | AT/- | del | 2 | |||
rs587776689 | 0.882 | 0.160 | 9 | 95453587 | missense variant | T/A;G | snv | 1 | |||
rs1060502285 | 1.000 | 0.160 | 9 | 95456414 | splice acceptor variant | C/T | snv | 1 | |||
rs786204056 | 1.000 | 0.160 | 9 | 95458011 | splice donor variant | A/G | snv | 1 | |||
rs1060502301 | 1.000 | 0.160 | 9 | 95458029 | stop gained | C/T | snv | 2 | |||
rs1131690980 | 9 | 95458039 | frameshift variant | GAAG/- | delins | 1 | |||||
rs1554691354 | 1.000 | 0.160 | 9 | 95458055 | frameshift variant | -/A | delins | 1 | |||
rs747234651 | 9 | 95458154 | stop gained | G/A;T | snv | 8.0E-06 | 1 | ||||
rs1060502298 | 1.000 | 0.160 | 9 | 95458178 | stop gained | A/T | snv | 1 | |||
rs1060502278 | 1.000 | 0.160 | 9 | 95458207 | stop gained | C/A | snv | 1 | |||
rs1554691423 | 1.000 | 0.160 | 9 | 95458249 | frameshift variant | -/TCTAC | ins | 1 |