Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1064794793 | 1.000 | 0.120 | 7 | 150950983 | stop gained | G/A | snv | 1 | |||
rs1085307620 | 1.000 | 0.120 | 7 | 150958306 | frameshift variant | TGCCA/G | delins | 1 | |||
rs1137617 | 1.000 | 0.120 | 7 | 150951110 | stop gained | A/C;G;T | snv | 0.66 | 1 | ||
rs139544114 | 1.000 | 0.120 | 7 | 150959602 | missense variant | G/A;T | snv | 1.2E-03; 4.0E-06 | 1 | ||
rs1399804251 | 1.000 | 0.120 | 7 | 150948443 | inframe insertion | -/GTGTCC | delins | 1 | |||
rs1554424070 | 1.000 | 0.120 | 7 | 150947378 | frameshift variant | CGCCGACCCGGGC/- | delins | 1 | |||
rs1554424079 | 1.000 | 0.120 | 7 | 150947381 | frameshift variant | -/GC | delins | 1 | |||
rs1554424083 | 1.000 | 0.120 | 7 | 150947383 | frameshift variant | -/ACCCG | delins | 1 | |||
rs1554424138 | 1.000 | 0.120 | 7 | 150947426 | frameshift variant | G/- | delins | 1 | |||
rs1554424671 | 1.000 | 0.120 | 7 | 150948478 | frameshift variant | -/T | delins | 1 | |||
rs1554425149 | 1.000 | 0.120 | 7 | 150950163 | missense variant | C/A | snv | 1 | |||
rs1554425226 | 1.000 | 0.120 | 7 | 150950249 | inframe deletion | ATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGC/- | delins | 1 | |||
rs1554425284 | 1.000 | 0.120 | 7 | 150950347 | frameshift variant | -/A | delins | 1 | |||
rs1554425320 | 1.000 | 0.120 | 7 | 150950421 | splice acceptor variant | CTG/TT | delins | 1 | |||
rs1554425486 | 1.000 | 0.120 | 7 | 150951004 | stop gained | G/A | snv | 1 | |||
rs1554425527 | 1.000 | 0.120 | 7 | 150951065 | stop gained | -/T | delins | 1 | |||
rs1554426219 | 1.000 | 0.120 | 7 | 150952646 | frameshift variant | -/A | delins | 1 | |||
rs1554427317 | 1.000 | 0.120 | 7 | 150957297 | frameshift variant | GA/- | del | 1 | |||
rs1554427943 | 1.000 | 0.120 | 7 | 150958439 | frameshift variant | ACGACTCCCGGGCCGTCAGCGCCAG/- | delins | 1 | |||
rs1554428170 | 1.000 | 0.120 | 7 | 150959574 | frameshift variant | G/- | delins | 1 | |||
rs1554428173 | 1.000 | 0.120 | 7 | 150959583 | stop gained | C/T | snv | 1 | |||
rs1554430908 | 1.000 | 0.120 | 7 | 150974767 | frameshift variant | ATCTGCGCGGCAGCGCGGCGCTGCGTGCGCG/- | delins | 1 | |||
rs1554431441 | 1.000 | 0.120 | 7 | 150977847 | frameshift variant | -/A | delins | 1 | |||
rs1563161538 | 1.000 | 0.120 | 7 | 150952843 | frameshift variant | A/- | del | 1 | |||
rs1563161565 | 1.000 | 0.120 | 7 | 150952849 | frameshift variant | AG/- | del | 1 |