Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555516520 | 1.000 | 0.080 | 16 | 68819278 | splice acceptor variant | A/G | snv | 1 | |||
rs1555516545 | 1.000 | 0.080 | 16 | 68819325 | frameshift variant | G/- | delins | 1 | |||
rs1555516896 | 1.000 | 0.080 | 16 | 68822206 | frameshift variant | CA/- | del | 1 | |||
rs1555517136 | 1.000 | 0.080 | 16 | 68823562 | frameshift variant | T/- | del | 1 | |||
rs1555517680 | 1.000 | 0.080 | 16 | 68828284 | frameshift variant | G/- | delins | 1 | |||
rs1555517889 | 1.000 | 0.080 | 16 | 68829743 | frameshift variant | GGTATCTTCCCCGCCCTGCC/- | delins | 1 | |||
rs1567501500 | 1.000 | 0.080 | 16 | 68801874 | frameshift variant | -/CCGCCCC | delins | 1 | |||
rs1567504575 | 1.000 | 0.080 | 16 | 68808493 | stop gained | A/T | snv | 1 | |||
rs1567504977 | 1.000 | 0.080 | 16 | 68808849 | splice donor variant | G/A | snv | 1 | |||
rs1567506511 | 1.000 | 0.080 | 16 | 68811672 | splice acceptor variant | TCTTCCAGGAAC/- | delins | 1 | |||
rs1567507138 | 1.000 | 0.080 | 16 | 68812233 | frameshift variant | C/- | del | 1 | |||
rs1567507724 | 1.000 | 0.080 | 16 | 68813345 | frameshift variant | C/- | del | 1 | |||
rs1567508939 | 1.000 | 0.080 | 16 | 68815652 | frameshift variant | TG/- | delins | 1 | |||
rs1567512585 | 1.000 | 0.080 | 16 | 68822202 | stop gained | G/A | snv | 1 | |||
rs1567513227 | 1.000 | 0.080 | 16 | 68823452 | frameshift variant | A/- | delins | 1 | |||
rs1567516230 | 1.000 | 0.080 | 16 | 68829798 | splice donor variant | G/T | snv | 1 | |||
rs35572355 | 1.000 | 0.080 | 16 | 68833344 | missense variant | G/A;C | snv | 1.7E-04; 4.0E-06 | 1 | ||
rs587776398 | 1.000 | 0.080 | 16 | 68812149 | stop gained | T/C;G | snv | 3.6E-05 | 1 | ||
rs730881663 | 1.000 | 0.080 | 16 | 68810216 | stop gained | C/A | snv | 1 | |||
rs771085839 | 1.000 | 0.080 | 16 | 68808692 | splice acceptor variant | G/C | snv | 4.0E-06 | 1 | ||
rs781409616 | 1.000 | 0.080 | 16 | 68801789 | stop gained | C/T | snv | 4.0E-06 | 1 | ||
rs864622655 | 1.000 | 0.080 | 16 | 68808536 | frameshift variant | A/- | delins | 1 | |||
rs876658944 | 1.000 | 0.080 | 16 | 68828274 | stop gained | T/A;C | snv | 1 | |||
rs876659503 | 1.000 | 0.080 | 16 | 68810302 | stop gained | G/A;C;T | snv | 8.0E-06 | 1 | ||
rs876661106 | 1.000 | 0.080 | 16 | 68801843 | stop gained | A/G;T | snv | 4.0E-06 | 1 |