Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs730882147 | 0.851 | 0.080 | 6 | 41909351 | missense variant | C/G | snv | 7.0E-06 | 5 | ||
rs878853324 | 0.882 | 0.160 | 1 | 40078579 | missense variant | A/T | snv | 5 | |||
rs1193124736 | 0.851 | 0.120 | 21 | 25982462 | missense variant | G/T | snv | 7.0E-06 | 4 | ||
rs878853322 | 0.925 | 0.160 | 1 | 40078573 | missense variant | G/A | snv | 4 | |||
rs878853323 | 0.882 | 0.160 | 1 | 40092499 | missense variant | A/G | snv | 4 | |||
rs796052019 | 0.882 | 0.160 | 13 | 100157297 | missense variant | G/A;T | snv | 4.0E-06 | 3 | ||
rs146539065 | 0.752 | 0.240 | 4 | 25145092 | synonymous variant | C/T | snv | 2.8E-05 | 4.2E-05 | 34 | |
rs1133174 | 0.882 | 0.120 | 11 | 121631046 | 3 prime UTR variant | G/A | snv | 0.55 | 3 | ||
rs1057516264 | 0.776 | 0.280 | 11 | 6614968 | frameshift variant | C/-;CC | delins | 13 | |||
rs869320624 | 0.776 | 0.400 | 1 | 19220814 | frameshift variant | AAGG/- | delins | 1.4E-05 | 13 | ||
rs1554901898 | 0.776 | 0.280 | 11 | 6616858 | frameshift variant | A/- | delins | 12 | |||
rs1554902217 | 0.851 | 0.160 | 11 | 6618821 | frameshift variant | A/- | del | 7 | |||
rs878853325 | 0.851 | 0.240 | 1 | 40089414 | frameshift variant | C/- | delins | 6 | |||
rs1555642784 | 0.851 | 0.160 | 17 | 42688979 | frameshift variant | -/C | delins | 5 | |||
rs895293055 | 0.851 | 0.080 | 6 | 41909351 | frameshift variant | C/- | delins | 5 | |||
rs776969714 | 0.752 | 0.240 | 4 | 25145129 | splice acceptor variant | -/C | delins | 4.2E-05 | 34 | ||
rs796052243 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 54 | |||
rs405509 | 0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 | 30 | ||
rs1990622 | 0.742 | 0.200 | 7 | 12244161 | downstream gene variant | A/G | snv | 0.52 | 16 |