Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs587781276 | 1.000 | 0.080 | 16 | 68823524 | stop gained | TG/- | delins | 2 | |||
rs1567508939 | 1.000 | 0.080 | 16 | 68815652 | frameshift variant | TG/- | delins | 1 | |||
rs1567506511 | 1.000 | 0.080 | 16 | 68811672 | splice acceptor variant | TCTTCCAGGAAC/- | delins | 1 | |||
rs1060501214 | 1.000 | 0.080 | 16 | 68810201 | frameshift variant | TC/- | delins | 1 | |||
rs786203089 | 1.000 | 0.080 | 16 | 68819425 | splice donor variant | TAAGGG/- | delins | 2 | |||
rs1555509623 | 1.000 | 0.080 | 16 | 68737417 | start lost | T/C;G | snv | 2 | |||
rs587776398 | 1.000 | 0.080 | 16 | 68812149 | stop gained | T/C;G | snv | 3.6E-05 | 1 | ||
rs1060501237 | 1.000 | 0.080 | 16 | 68811861 | splice donor variant | T/C | snv | 1 | |||
rs1555515297 | 1.000 | 0.080 | 16 | 68808850 | splice donor variant | T/C | snv | 1 | |||
rs104894360 | 0.724 | 0.560 | 12 | 25209904 | missense variant | T/A;C | snv | 14 | |||
rs876659716 | 1.000 | 0.080 | 16 | 68819283 | stop gained | T/A;C | snv | 8.0E-06 | 2 | ||
rs876658944 | 1.000 | 0.080 | 16 | 68828274 | stop gained | T/A;C | snv | 1 | |||
rs1555515731 | 0.882 | 0.160 | 16 | 68812189 | frameshift variant | T/- | delins | 4 | |||
rs1131690819 | 1.000 | 0.080 | 16 | 68810229 | frameshift variant | T/- | del | 2 | |||
rs1555515739 | 1.000 | 0.080 | 16 | 68812211 | frameshift variant | T/- | del | 2 | |||
rs786202151 | 1.000 | 0.080 | 16 | 68801708 | frameshift variant | T/- | del | 2 | |||
rs786203752 | 1.000 | 0.080 | 16 | 68829785 | frameshift variant | T/- | delins | 2 | |||
rs1555517136 | 1.000 | 0.080 | 16 | 68823562 | frameshift variant | T/- | del | 1 | |||
rs1555517889 | 1.000 | 0.080 | 16 | 68829743 | frameshift variant | GGTATCTTCCCCGCCCTGCC/- | delins | 1 | |||
rs1555518239 | 1.000 | 0.080 | 16 | 68833356 | stop gained | G/T | snv | 2 | |||
rs587780787 | 1.000 | 0.080 | 16 | 68828296 | stop gained | G/T | snv | 4.0E-06 | 2 | ||
rs121964876 | 1.000 | 0.080 | 16 | 68738318 | stop gained | G/T | snv | 1 | |||
rs1567516230 | 1.000 | 0.080 | 16 | 68829798 | splice donor variant | G/T | snv | 1 | |||
rs1385720097 | 1.000 | 0.080 | 16 | 68828173 | splice acceptor variant | G/C;T | snv | 2 | |||
rs786201058 | 1.000 | 0.080 | 16 | 68738324 | stop gained | G/C;T | snv | 2 |