Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1561444620 | 1.000 | 0.120 | 5 | 112754919 | frameshift variant | -/A | delins | 2 | |||
rs863225332 | 1.000 | 0.120 | 5 | 112838397 | stop gained | -/A | delins | 2 | |||
rs876658724 | 1.000 | 0.120 | 5 | 112838660 | frameshift variant | -/A | delins | 2 | |||
rs1114167544 | 5 | 112839586 | frameshift variant | -/A | delins | 1 | |||||
rs1114167546 | 5 | 112767222 | frameshift variant | -/A | delins | 1 | |||||
rs1114167564 | 5 | 112837971 | frameshift variant | -/A | delins | 1 | |||||
rs1114167565 | 5 | 112792521 | frameshift variant | -/A | delins | 1 | |||||
rs1114167582 | 5 | 112838773 | frameshift variant | -/A | delins | 1 | |||||
rs1114167595 | 5 | 112839324 | frameshift variant | -/A | delins | 1 | |||||
rs1114167608 | 5 | 112801310 | frameshift variant | -/A | delins | 1 | |||||
rs1131691140 | 5 | 112837628 | frameshift variant | -/A | delins | 1 | |||||
rs1114167549 | 5 | 112841414 | frameshift variant | -/C | delins | 1 | |||||
rs1131691139 | 5 | 112838499 | frameshift variant | -/C | ins | 1 | |||||
rs1554086324 | 5 | 112840543 | frameshift variant | -/CT | delins | 1 | |||||
rs1554088600 | 1.000 | 0.120 | 5 | 112843284 | frameshift variant | -/G | delins | 2 | |||
rs1554069524 | 5 | 112766353 | frameshift variant | -/G | ins | 1 | |||||
rs1561576755 | 5 | 112837982 | frameshift variant | -/G | delins | 1 | |||||
rs876658176 | 5 | 112780825 | frameshift variant | -/GA | delins | 1 | |||||
rs1554085560 | 5 | 112839734 | frameshift variant | -/GGTC | delins | 1 | |||||
rs587781910 | 5 | 112838273 | frameshift variant | -/GTGTCAG | delins | 1 | |||||
rs587781451 | 1.000 | 0.120 | 5 | 112818966 | frameshift variant | -/T | delins | 2 | |||
rs863225308 | 1.000 | 0.120 | 5 | 112819257 | frameshift variant | -/T | delins | 2 | |||
rs863225361 | 1.000 | 0.120 | 5 | 112775679 | frameshift variant | -/T | delins | 2 | |||
rs1114167587 | 5 | 112840329 | frameshift variant | -/T | delins | 1 | |||||
rs1114167609 | 5 | 112838893 | frameshift variant | -/T | delins | 1 |