Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1563376793 | 1.000 | 0.080 | 8 | 31141776 | splice donor variant | G/C | snv | 1 | |||
rs1563382597 | 1.000 | 0.080 | 8 | 31150450 | frameshift variant | G/- | del | 1 | |||
rs1563385391 | 1.000 | 0.080 | 8 | 31154644 | frameshift variant | A/- | delins | 1 | |||
rs267607008 | 1.000 | 0.080 | 8 | 31064962 | missense variant | A/G | snv | 1 | |||
rs281865157 | 1.000 | 0.080 | 8 | 31108591 | intron variant | A/C;G | snv | 1 | |||
rs281865158 | 1.000 | 0.080 | 8 | 31111704 | frameshift variant | -/T | delins | 1 | |||
rs281865159 | 1.000 | 0.080 | 8 | 31147362 | splice acceptor variant | A/C | snv | 1 | |||
rs281865160 | 1.000 | 0.080 | 8 | 31150355 | frameshift variant | A/- | delins | 7.0E-06 | 1 | ||
rs369158322 | 1.000 | 0.080 | 8 | 31150454 | missense variant | A/C;T | snv | 4.0E-06 | 1 | ||
rs370324188 | 1.000 | 0.080 | 8 | 31068276 | stop gained | C/T | snv | 8.2E-06 | 7.0E-06 | 1 | |
rs371538747 | 1.000 | 0.080 | 8 | 31064406 | stop gained | T/A;C;G | snv | 4.0E-06 | 1 | ||
rs387906337 | 1.000 | 0.080 | 8 | 31064934 | missense variant | A/T | snv | 1 | |||
rs587776621 | 1.000 | 0.080 | 8 | 31157462 | frameshift variant | -/A | delins | 1 | |||
rs606231162 | 1.000 | 0.080 | 8 | 31154622 | splice region variant | AGAC/- | delins | 1 | |||
rs747319628 | 1.000 | 0.080 | 8 | 31132498 | stop gained | C/T | snv | 1.6E-05 | 2.8E-05 | 1 | |
rs747587698 | 1.000 | 0.080 | 8 | 31064304 | frameshift variant | -/G | delins | 1 | |||
rs748860208 | 1.000 | 0.080 | 8 | 31141490 | frameshift variant | AACA/- | delins | 5.6E-05 | 1 | ||
rs752830087 | 1.000 | 0.080 | 8 | 31067052 | frameshift variant | G/- | delins | 1.2E-05 | 1 | ||
rs757808169 | 1.000 | 0.080 | 8 | 31090857 | stop gained | C/T | snv | 4.0E-06 | 1 | ||
rs758988621 | 1.000 | 0.080 | 8 | 31064288 | splice acceptor variant | G/A | snv | 1.6E-05 | 2.1E-05 | 1 | |
rs759972548 | 1.000 | 0.080 | 8 | 31141495 | frameshift variant | AG/- | delins | 1.4E-05 | 1 | ||
rs763089663 | 1.000 | 0.080 | 8 | 31111747 | stop gained | C/T | snv | 8.0E-06 | 1 | ||
rs772319506 | 1.000 | 0.080 | 8 | 31091900 | splice donor variant | T/G | snv | 4.0E-06 | 1 | ||
rs774765029 | 1.000 | 0.080 | 8 | 31124556 | stop gained | C/T | snv | 2.4E-05 | 1 | ||
rs776785728 | 1.000 | 0.080 | 8 | 31065058 | frameshift variant | AA/- | delins | 6.4E-05 | 2.1E-05 | 1 |