Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs768966657 | 1.000 | 0.120 | 9 | 21971021 | inframe insertion | -/ACG | delins | 1.3E-05 | 2 | ||
rs398123152 | 1.000 | 0.120 | 9 | 21974721 | frameshift variant | -/C | delins | 2 | |||
rs1131691188 | 9 | 21974782 | frameshift variant | -/C | delins | 1 | |||||
rs779306249 | 1.000 | 0.120 | 9 | 21994234 | frameshift variant | -/C | delins | 1.7E-05 | 1.4E-05 | 1 | |
rs730881672 | 9 | 21974781 | protein altering variant | -/GCC | delins | 1 | |||||
rs1554653976 | 9 | 21971015 | frameshift variant | -/GGGC | delins | 1 | |||||
rs1563889847 | 1.000 | 0.120 | 9 | 21971161 | frameshift variant | -/T | delins | 1 | |||
rs730881673 | 1.000 | 0.120 | 9 | 21974696 | stop gained | -/T;TT | delins | 4.0E-06 | 2 | ||
rs1563888944 | 1.000 | 0.120 | 9 | 21970998 | frameshift variant | -/TC | delins | 1 | |||
rs1563892715 | 1.000 | 0.120 | 9 | 21974759 | frameshift variant | A/- | del | 1 | |||
rs775176191 | 1.000 | 0.040 | 9 | 21974745 | missense variant | A/C | snv | 1 | |||
rs199907548 | 0.882 | 0.160 | 9 | 21974682 | missense variant | A/C;G | snv | 6.3E-04 | 5 | ||
rs3731217 | 0.763 | 0.320 | 9 | 21984662 | intron variant | A/C;T | snv | 10 | |||
rs104894099 | 0.851 | 0.200 | 9 | 21971183 | missense variant | A/C;T | snv | 4.6E-06 | 5 | ||
rs864622263 | 1.000 | 0.120 | 9 | 21974781 | missense variant | A/C;T | snv | 2 | |||
rs3731239 | 0.763 | 0.240 | 9 | 21974219 | intron variant | A/G | snv | 0.26 | 10 | ||
rs3731215 | 9 | 21985772 | intron variant | A/G | snv | 1.2E-03 | 5 | ||||
rs878853650 | 0.925 | 0.120 | 9 | 21974733 | missense variant | A/G | snv | 3 | |||
rs1060501265 | 1.000 | 0.120 | 9 | 21974676 | splice donor variant | A/G | snv | 1 | |||
rs2811709 | 1.000 | 0.120 | 9 | 21980152 | intron variant | A/G | snv | 0.88 | 1 | ||
rs6413463 | 1.000 | 0.040 | 9 | 21970990 | missense variant | A/G;T | snv | 2.9E-05; 3.0E-04 | 1 | ||
rs104894098 | 0.851 | 0.200 | 9 | 21970982 | missense variant | A/T | snv | 5 | |||
rs774904310 | 0.925 | 0.080 | 9 | 21971055 | frameshift variant | C/- | delins | 3 | |||
rs1060501263 | 1.000 | 0.120 | 9 | 21971001 | frameshift variant | C/- | delins | 2 | |||
rs1329443726 | 1.000 | 0.080 | 9 | 21971097 | frameshift variant | C/- | delins | 1 |