| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs749567106 | 0.925 | 0.120 | 13 | 99985449 | inframe insertion | GGCGGCGGC/-;GGC;GGCGGC;GGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC | delins | 2 | |||
| rs756225250 | 1.000 | 0.120 | 13 | 99985449 | inframe insertion | AGCGGCGGCGGCGGCTGCGGCGGCGGCGGC/-;AGCGGCGGCGGCGGCTGCGGCGGCGGCGGCAGCGGCGGCGGCGGCTGCGGCGGCGGCGGC | delins | 5.6E-05 | 1 | ||
| rs397515364 | 0.925 | 0.120 | 13 | 99985400 | frameshift variant | -/C | delins | 2 | |||
| rs794729641 | 1.000 | 0.120 | 13 | 99985328 | missense variant | T/G | snv | 1 | |||
| rs1566405714 | 1.000 | 0.120 | 13 | 99985098 | inframe deletion | AGCACA/- | delins | 1 | |||
| rs1060499564 | 1.000 | 0.120 | 13 | 99984966 | frameshift variant | AG/- | delins | 1 | |||
| rs1060499562 | 0.925 | 0.120 | 13 | 99984962 | stop gained | TG/- | delins | 2 | |||
| rs397515500 | 1.000 | 0.120 | 13 | 99984961 | frameshift variant | AG/- | del | 1 | |||
| rs1555332362 | 1.000 | 0.120 | 13 | 99984952 | frameshift variant | CGTTCCAGTGTGAGTTTGAGGGCTGCGACCGGCGCTTCGCCAACAGC/- | delins | 1 | |||
| rs1555332361 | 1.000 | 0.120 | 13 | 99984944 | splice acceptor variant | A/T | snv | 1 | |||
| rs397515365 | 0.925 | 0.120 | 13 | 99983104 | frameshift variant | GAGAACC/- | delins | 2 | |||
| rs397515499 | 1.000 | 0.120 | 13 | 99983000 | frameshift variant | G/- | del | 1 | |||
| rs1060499563 | 0.925 | 0.120 | 13 | 99982857 | stop gained | C/T | snv | 2 | |||
| rs1456001894 | 1.000 | 0.120 | 13 | 99982443 | frameshift variant | GG/-;G | delins | 1 | |||
| rs1555332212 | 1.000 | 0.120 | 13 | 99982384 | frameshift variant | C/- | delins | 1 | |||
| rs121434475 | 1.000 | 0.080 | MT | 9997 | non coding transcript exon variant | T/C | snv | 1 | |||
| rs181509591 | 1.000 | 0.160 | 4 | 9996817 | missense variant | G/A;C | snv | 1.4E-04; 2.4E-05 | 1 | ||
| rs6449213 | 0.827 | 0.240 | 4 | 9992591 | intron variant | C/T | snv | 0.82 | 1 | ||
| rs387906244 | 0.925 | 0.080 | 1 | 99921580 | stop gained | -/A | delins | 2 | |||
| rs1553193530 | 1.000 | 0.080 | 1 | 99916733 | splice donor variant | T/G | snv | 1 | |||
| rs1553193529 | 1.000 | 0.080 | 1 | 99916732 | splice donor variant | G/C | snv | 1 | |||
| rs12118058 | 1.000 | 0.080 | 1 | 99916709 | stop gained | C/G;T | snv | 3.6E-05 | 1.0E-04 | 2 | |
| rs113994134 | 0.925 | 0.080 | 1 | 99916704 | frameshift variant | T/- | delins | 2 | |||
| rs1557794150 | 1.000 | 0.080 | 1 | 99916633 | frameshift variant | -/AATTA | delins | 1 | |||
| rs775685508 | 1.000 | 0.080 | 1 | 99916603 | missense variant | G/T | snv | 1.2E-05 | 1 |