Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs35049558 | 0.851 | 0.040 | 12 | 110914287 | frameshift variant | -/CT | ins | 8.0E-06 | 8 | ||
rs727503166 | 0.851 | 0.080 | 11 | 47332110 | frameshift variant | T/- | del | 5 | |||
rs1553707780 | 0.925 | 0.040 | 2 | 178616928 | frameshift variant | T/- | del | 4 | |||
rs727503172 | 0.882 | 0.080 | 11 | 47333236 | frameshift variant | C/- | del | 4 | |||
rs1553663867 | 0.925 | 0.160 | 2 | 178598969 | frameshift variant | G/- | del | 3 | |||
rs397515934 | 0.925 | 0.080 | 11 | 47341140 | frameshift variant | A/- | del | 3 | |||
rs1555122928 | 1.000 | 0.080 | 11 | 47347434 | frameshift variant | C/- | del | 2 | |||
rs1565631430 | 1.000 | 0.080 | 11 | 47350600 | frameshift variant | ATGGGCTCTG/- | del | 2 | |||
rs397517408 | 1.000 | 0.080 | 18 | 31093617 | frameshift variant | G/- | del | 2 | |||
rs727504466 | 2 | 178591326 | frameshift variant | T/- | del | 2 | |||||
rs1559262463 | 2 | 178558000 | frameshift variant | A/- | del | 1 | |||||
rs1559556267 | 2 | 178588040 | frameshift variant | CTGCA/- | del | 1 | |||||
rs1565623439 | 11 | 47333627 | frameshift variant | TGAAT/- | del | 1 | |||||
rs1565627110 | 11 | 47341145 | frameshift variant | G/- | del | 1 | |||||
rs1566147422 | 12 | 110911146 | frameshift variant | AG/- | del | 1 | |||||
rs730880092 | 6 | 7583572 | frameshift variant | A/- | del | 5.2E-05 | 2.8E-05 | 1 | |||
rs730880655 | 11 | 47336010 | frameshift variant | A/- | del | 1 | |||||
rs730880714 | 11 | 47337721 | frameshift variant | C/- | del | 1 | |||||
rs730880715 | 11 | 47337450 | frameshift variant | G/- | del | 1 | |||||
rs730880717 | 11 | 47335038 | splice donor variant | TCACGCAGGATCTCCT/- | del | 1 | |||||
rs794729354 | 2 | 178559741 | frameshift variant | AGTAC/- | del | 1 | |||||
rs397516059 | 0.851 | 0.080 | 11 | 47349876 | frameshift variant | -/A | delins | 8.2E-06 | 5 | ||
rs397516029 | 0.882 | 0.080 | 11 | 47332569 | frameshift variant | G/-;GG | delins | 4.0E-06 | 4 | ||
rs397516706 | 0.925 | 0.080 | 18 | 31546441 | frameshift variant | AGAG/-;AG | delins | 4 | |||
rs397516784 | 0.925 | 0.080 | 6 | 118558957 | inframe deletion | AGA/- | delins | 1.4E-05 | 4 |