Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1019221239 | 0.925 | 0.120 | 5 | 112835093 | stop gained | T/A;C;G | snv | 4.0E-06 | 3 | ||
rs1057517559 | 1.000 | 0.120 | 5 | 112815595 | splice donor variant | T/C | snv | 2 | |||
rs1060503261 | 1.000 | 0.120 | 5 | 112801383 | splice region variant | G/A | snv | 2 | |||
rs1060503318 | 1.000 | 0.120 | 5 | 112835165 | missense variant | G/A;T | snv | 2 | |||
rs1060503323 | 0.925 | 0.120 | 5 | 112780782 | splice region variant | G/A | snv | 3 | |||
rs1060503333 | 0.925 | 0.120 | 5 | 112821953 | stop gained | C/A;G | snv | 3 | |||
rs1060503336 | 1.000 | 0.120 | 5 | 112837690 | stop gained | G/A | snv | 2 | |||
rs1064793020 | 1.000 | 0.120 | 5 | 112767198 | frameshift variant | ATAG/- | delins | 2 | |||
rs1064793535 | 1.000 | 0.120 | 5 | 112767318 | stop gained | C/A | snv | 2 | |||
rs1064794163 | 1.000 | 0.120 | 5 | 112827106 | splice acceptor variant | A/C;G;T | snv | 2 | |||
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 | |||||
rs1114167558 | 1.000 | 0.120 | 5 | 112819250 | frameshift variant | C/- | delins | 2 | |||
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 |