Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1114167544 | 5 | 112839586 | frameshift variant | -/A | delins | 1 | |||||
rs1114167545 | 5 | 112819210 | stop gained | C/G | snv | 1 | |||||
rs1114167546 | 5 | 112767222 | frameshift variant | -/A | delins | 1 | |||||
rs1114167547 | 5 | 112839165 | stop gained | C/T | snv | 1 | |||||
rs1114167549 | 5 | 112841414 | frameshift variant | -/C | delins | 1 | |||||
rs1114167550 | 5 | 112775740 | splice region variant | A/C | snv | 1 | |||||
rs1114167551 | 5 | 112838775 | frameshift variant | CAAA/- | delins | 1 | |||||
rs1114167552 | 5 | 112840273 | frameshift variant | A/-;AA | delins | 1 | |||||
rs1114167554 | 5 | 112838939 | frameshift variant | G/- | delins | 1 | |||||
rs1114167555 | 5 | 112841111 | frameshift variant | T/- | delins | 1 | |||||
rs1114167559 | 5 | 112838295 | stop gained | C/T | snv | 1 | |||||
rs1114167561 | 5 | 112754982 | frameshift variant | C/- | delins | 1 | |||||
rs1114167562 | 5 | 112838584 | stop gained | TGGTCA/- | delins | 1 | |||||
rs1114167564 | 5 | 112837971 | frameshift variant | -/A | delins | 1 | |||||
rs1114167565 | 5 | 112792521 | frameshift variant | -/A | delins | 1 | |||||
rs1114167566 | 5 | 112839648 | frameshift variant | G/- | del | 1 | |||||
rs1114167568 | 5 | 112839651 | stop gained | G/T | snv | 1 | |||||
rs1114167571 | 5 | 112839350 | frameshift variant | T/- | delins | 1 | |||||
rs1114167573 | 5 | 112838019 | frameshift variant | A/- | delins | 1 | |||||
rs1114167576 | 5 | 112838088 | frameshift variant | CAGCTCC/- | delins | 1 | |||||
rs1114167578 | 5 | 112839625 | stop gained | C/G | snv | 1 | |||||
rs1114167579 | 5 | 112819346 | splice donor variant | T/C | snv | 1 | |||||
rs1114167582 | 5 | 112838773 | frameshift variant | -/A | delins | 1 | |||||
rs1114167583 | 5 | 112839342 | frameshift variant | AA/- | delins | 1 | |||||
rs1114167584 | 5 | 112837723 | frameshift variant | T/- | del | 1 |