Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs876659384 | 0.851 | 0.240 | 17 | 7673552 | stop gained | C/A | snv | 3 | |||
rs1555518239 | 1.000 | 0.080 | 16 | 68833356 | stop gained | G/T | snv | 2 | |||
rs35572355 | 1.000 | 0.080 | 16 | 68833344 | missense variant | G/A;C | snv | 1.7E-04; 4.0E-06 | 1 | ||
rs1555518221 | 1.000 | 0.080 | 16 | 68833320 | frameshift variant | -/C | delins | 2 | |||
rs1555518211 | 1.000 | 0.080 | 16 | 68833296 | stop gained | A/G;T | snv | 2 | |||
rs1555518210 | 1.000 | 0.080 | 16 | 68833288 | splice acceptor variant | A/G | snv | 2 | |||
rs1567516230 | 1.000 | 0.080 | 16 | 68829798 | splice donor variant | G/T | snv | 1 | |||
rs786203752 | 1.000 | 0.080 | 16 | 68829785 | frameshift variant | T/- | delins | 2 | |||
rs587783048 | 1.000 | 0.080 | 16 | 68829753 | frameshift variant | C/- | delins | 2 | |||
rs1555517889 | 1.000 | 0.080 | 16 | 68829743 | frameshift variant | GGTATCTTCCCCGCCCTGCC/- | delins | 1 | |||
rs1375617541 | 1.000 | 0.080 | 16 | 68829739 | frameshift variant | -/C | delins | 4.0E-06 | 1 | ||
rs1060501248 | 1.000 | 0.080 | 16 | 68829679 | frameshift variant | G/- | delins | 1 | |||
rs1057517542 | 1.000 | 0.080 | 16 | 68829653 | splice acceptor variant | G/A | snv | 2 | |||
rs876660393 | 1.000 | 0.080 | 16 | 68829652 | splice acceptor variant | A/G | snv | 2 | |||
rs876658575 | 1.000 | 0.080 | 16 | 68828302 | stop gained | C/T | snv | 2 | |||
rs587780787 | 1.000 | 0.080 | 16 | 68828296 | stop gained | G/T | snv | 4.0E-06 | 2 | ||
rs1555517680 | 1.000 | 0.080 | 16 | 68828284 | frameshift variant | G/- | delins | 1 | |||
rs786202785 | 1.000 | 0.080 | 16 | 68828281 | stop gained | G/A;T | snv | 2 | |||
rs876658944 | 1.000 | 0.080 | 16 | 68828274 | stop gained | T/A;C | snv | 1 | |||
rs1060501244 | 1.000 | 0.080 | 16 | 68828204 | missense variant | G/A;T | snv | 8.0E-06 | 2 | ||
rs1385720097 | 1.000 | 0.080 | 16 | 68828173 | splice acceptor variant | G/C;T | snv | 2 | |||
rs149127230 | 1.000 | 0.080 | 16 | 68823566 | stop gained | G/A;C;T | snv | 1.7E-04; 4.0E-06 | 1 | ||
rs1555517136 | 1.000 | 0.080 | 16 | 68823562 | frameshift variant | T/- | del | 1 | |||
rs121964874 | 1.000 | 0.080 | 16 | 68823557 | stop gained | C/A;G;T | snv | 4.0E-06 | 1 | ||
rs587781276 | 1.000 | 0.080 | 16 | 68823524 | stop gained | TG/- | delins | 2 |