Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104894021 | 0.851 | 0.120 | 7 | 150951629 | missense variant | G/C;T | snv | 5 | |||
rs199472936 | 0.882 | 0.120 | 7 | 150951592 | missense variant | C/A;T | snv | 5 | |||
rs121912507 | 0.882 | 0.120 | 7 | 150951511 | missense variant | C/G;T | snv | 4 | |||
rs773724817 | 0.925 | 0.160 | 7 | 150948861 | stop gained | G/A | snv | 4.0E-06 | 4 | ||
rs1254179611 | 1.000 | 0.120 | 7 | 150958295 | missense variant | G/A | snv | 3 | |||
rs199473024 | 7 | 150947362 | missense variant | T/C | snv | 7.0E-06 | 2 | ||||
rs794728425 | 1.000 | 0.120 | 7 | 150958220 | frameshift variant | -/GGCGATGGGAGCTGGCCGGG | delins | 2 | |||
rs794728470 | 1.000 | 0.120 | 7 | 150947367 | frameshift variant | -/TCGCCCCG | delins | 1.4E-05 | 2 | ||
rs794728508 | 1.000 | 0.120 | 7 | 150974864 | frameshift variant | A/- | del | 2 | |||
rs757549384 | 7 | 150948478 | synonymous variant | C/T | snv | 4.0E-06 | 1 | ||||
rs794728426 | 7 | 150958163 | frameshift variant | CGCG/GCTTTT | delins | 1 | |||||
rs794728428 | 7 | 150958116 | frameshift variant | TCGGCCG/- | delins | 1 | |||||
rs794728434 | 7 | 150952777 | frameshift variant | -/CAGG | delins | 1 | |||||
rs794728456 | 7 | 150947794 | frameshift variant | G/- | delins | 1 | |||||
rs794728457 | 7 | 150947782 | frameshift variant | TCTCCCC/- | delins | 1 | |||||
rs794728464 | 7 | 150947512 | splice region variant | -/CTGC | delins | 1 | |||||
rs794728465 | 7 | 150947400 | frameshift variant | -/G | delins | 1 | |||||
rs794728467 | 7 | 150947380 | frameshift variant | -/CCGCC;CGCC | delins | 1 | |||||
rs794728472 | 7 | 150947344 | frameshift variant | G/- | delins | 1 | |||||
rs794728476 | 7 | 150974765 | inframe insertion | -/ATCTGCGCG | delins | 1 | |||||
rs794728489 | 7 | 150959670 | frameshift variant | -/CCAC | ins | 1 | |||||
rs794728497 | 7 | 150952840 | frameshift variant | C/- | delins | 1 | |||||
rs794728499 | 7 | 150951578 | frameshift variant | G/- | delins | 1 | |||||
rs794728500 | 7 | 150951013 | frameshift variant | G/- | delins | 1 | |||||
rs794728506 | 7 | 150974918 | frameshift variant | C/- | del | 1 |