Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555174708 | 0.925 | 12 | 48916993 | frameshift variant | A/- | del | 4 | ||||
rs1555380716 | 0.882 | 0.120 | 15 | 34255385 | frameshift variant | -/C | delins | 5 | |||
rs1560092224 | 0.925 | 0.040 | 3 | 114339276 | missense variant | T/A | snv | 5 | |||
rs1554297905 | 0.882 | 0.160 | 7 | 39686740 | missense variant | G/A | snv | 6 | |||
rs1553544133 | 0.851 | 0.200 | 2 | 199308845 | frameshift variant | TC/- | delins | 6 | |||
rs1556009247 | 0.882 | X | 72490973 | missense variant | A/C;T | snv | 7 | ||||
rs1561964103 | 0.882 | 0.080 | 6 | 50836108 | frameshift variant | G/- | delins | 7 | |||
rs201217593 | 0.790 | 0.200 | X | 31177947 | stop gained | C/T | snv | 2.2E-05 | 2.9E-05 | 8 | |
rs1559155954 | 0.851 | 0.200 | 2 | 219568211 | frameshift variant | -/A | delins | 9 | |||
rs1567368243 | 0.882 | 0.040 | 15 | 75411651 | frameshift variant | -/T | delins | 9 | |||
rs794727774 | 0.827 | 0.240 | 1 | 23848684 | stop gained | C/T | snv | 11 | |||
rs1334099693 | 0.882 | 0.080 | 6 | 21594732 | missense variant | C/A;T | snv | 4.6E-06 | 11 | ||
rs886041125 | 0.807 | 0.440 | 16 | 89284635 | frameshift variant | GTTTT/- | delins | 7.0E-06 | 12 | ||
rs786200952 | 0.851 | 0.120 | 8 | 41934340 | frameshift variant | -/T | delins | 13 | |||
rs1057516030 | 0.807 | 0.280 | 21 | 37480785 | stop gained | -/A | delins | 14 | |||
rs1569525894 | 0.790 | 0.280 | X | 136040055 | frameshift variant | TCTTCCTTAACCACCGC/- | delins | 14 | |||
rs1554603293 | 0.752 | 0.320 | 8 | 60849154 | missense variant | G/A | snv | 17 | |||
rs879253753 | 0.851 | 0.280 | 16 | 89280526 | frameshift variant | -/T | delins | 19 | |||
rs1425998598 | 0.763 | 0.240 | 17 | 67918802 | missense variant | G/A;C | snv | 1.2E-05 | 19 | ||
rs1555429629 | 0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv | 23 | |||
rs387907141 | 0.752 | 0.360 | 6 | 157181137 | stop gained | C/T | snv | 24 | |||
rs1569509136 | 0.708 | 0.400 | X | 53647576 | splice acceptor variant | T/C | snv | 24 | |||
rs1060499548 | 0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv | 27 | |||
rs180177135 | 0.716 | 0.520 | 16 | 23607891 | frameshift variant | T/- | del | 2.1E-05 | 27 | ||
rs397517148 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 27 |