Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1557194525 | 1.000 | 0.120 | X | 154420961 | frameshift variant | C/- | del | 3 | |||
rs1554236040 | 0.882 | 0.320 | 6 | 157201464 | stop gained | C/T | snv | 5 | |||
rs797045141 | 0.882 | 0.160 | 15 | 63696341 | splice acceptor variant | T/G | snv | 5 | |||
rs1555380716 | 0.882 | 0.120 | 15 | 34255385 | frameshift variant | -/C | delins | 5 | |||
rs727503030 | 0.925 | 0.040 | 7 | 74054770 | splice donor variant | G/A | snv | 6.0E-05 | 6.3E-05 | 6 | |
rs387906819 | 0.882 | 0.120 | 18 | 22181517 | missense variant | G/A | snv | 6 | |||
rs121913375 | 0.851 | 0.240 | 7 | 140753339 | missense variant | G/A;C | snv | 7 | |||
rs1057524237 | 0.851 | 0.280 | 1 | 102915626 | splice region variant | C/T | snv | 7 | |||
rs749203329 | 0.882 | 0.080 | 19 | 6213787 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 7 | |
rs1553200431 | 0.851 | 0.240 | 1 | 102912180 | inframe deletion | CCTCACCAGATGGGCCAG/- | delins | 8 | |||
rs1554496813 | 0.827 | 0.160 | 7 | 152177839 | frameshift variant | -/G | delins | 8 | |||
rs397507539 | 0.851 | 0.160 | 12 | 112489047 | missense variant | C/A;G;T | snv | 4.0E-06 | 8 | ||
rs397507540 | 0.851 | 0.160 | 12 | 112489048 | missense variant | C/A;T | snv | 8 | |||
rs869312687 | 0.925 | 0.080 | 1 | 155910695 | missense variant | T/G | snv | 8 | |||
rs1553630457 | 0.882 | 0.240 | 3 | 30674231 | missense variant | T/C | snv | 8 | |||
rs1554846212 | 0.851 | 0.160 | 10 | 75030037 | missense variant | C/T | snv | 9 | |||
rs1569167586 | 0.851 | 0.160 | 22 | 37973687 | frameshift variant | AGTAG/- | delins | 9 | |||
rs397507509 | 0.807 | 0.240 | 12 | 112450359 | missense variant | G/C;T | snv | 9 | |||
rs1213930919 | 0.882 | 0.120 | 2 | 178577785 | stop gained | G/A | snv | 9 | |||
rs1555932766 | 0.882 | 0.080 | X | 41210540 | stop gained | C/T | snv | 9 | |||
rs1114167291 | 0.790 | 0.280 | 16 | 89281225 | stop gained | C/A | snv | 10 | |||
rs121918470 | 0.790 | 0.160 | 12 | 112489105 | missense variant | A/C;G | snv | 4.0E-06 | 10 | ||
rs369634007 | 0.882 | 0.080 | 2 | 112098688 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 | 10 | |
rs121913378 | 0.776 | 0.280 | 7 | 140753337 | missense variant | C/A;G;T | snv | 11 | |||
rs1554317931 | 0.851 | 0.080 | 7 | 42045460 | frameshift variant | G/- | delins | 11 |