Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1060500699 | 3 | 37025702 | frameshift variant | -/T | delins | 2 | |||||
rs1302248679 | 3 | 37025913 | stop gained | G/A;T | snv | 2 | |||||
rs1416171624 | 3 | 37047578 | stop gained | G/A;T | snv | 4.0E-06 | 2 | ||||
rs1553648149 | 3 | 37020419 | frameshift variant | AAGC/- | delins | 2 | |||||
rs63751137 | 3 | 37001019 | stop gained | T/A;G | snv | 2 | |||||
rs764085979 | 3 | 37014453 | stop gained | T/A;C | snv | 4.0E-06 | 2 | ||||
rs876658821 | 3 | 37028895 | frameshift variant | AG/- | delins | 2 | |||||
rs876659608 | 3 | 37050588 | stop gained | G/T | snv | 2 | |||||
rs878853778 | 3 | 37028828 | frameshift variant | -/T | delins | 2 | |||||
rs878853785 | 3 | 37048957 | frameshift variant | AT/- | delins | 2 | |||||
rs1060500687 | 3 | 37047639 | frameshift variant | AA/A;AAA;G | delins | 1 | |||||
rs1060500688 | 3 | 37001014 | frameshift variant | G/- | delins | 1 | |||||
rs1060500689 | 3 | 37007000 | stop gained | C/G;T | snv | 4.0E-06 | 1 | ||||
rs1060500692 | 3 | 37025668 | frameshift variant | GAGATGG/- | delins | 1 | |||||
rs1060500698 | 3 | 37050639 | frameshift variant | T/- | delins | 1 | |||||
rs1060500703 | 3 | 37025639 | frameshift variant | T/- | delins | 1 | |||||
rs1060500706 | 3 | 37050517 | frameshift variant | G/- | delins | 1 | |||||
rs1060500707 | 3 | 37025644 | stop gained | -/A | delins | 1 | |||||
rs1064794331 | 3 | 37048557 | frameshift variant | -/TGTGCCCC | delins | 1 | |||||
rs1064795341 | 3 | 36993553 | frameshift variant | CGTGGCAGGGGTT/- | delins | 1 | |||||
rs1064795515 | 3 | 37025998 | frameshift variant | G/- | del | 1 | |||||
rs1064795693 | 3 | 36996690 | missense variant | A/G | snv | 1 | |||||
rs1064796057 | 3 | 37011825 | stop gained | C/G;T | snv | 1 | |||||
rs1248251121 | 3 | 37008892 | stop gained | G/A;C;T | snv | 8.0E-06 | 1 | ||||
rs1305605404 | 3 | 36996619 | missense variant | T/C;G | snv | 1 |