Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs878853250 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 37 | |||
rs1553920379 | 0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins | 27 | |||
rs1554208945 | 0.752 | 0.240 | 6 | 87260207 | missense variant | A/C | snv | 26 | |||
rs387906686 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 23 | |||
rs28934908 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 12 | ||
rs869312702 | 0.827 | 0.160 | 9 | 128203609 | missense variant | G/A | snv | 10 | |||
rs1553525325 | 0.807 | 0.120 | 2 | 166002716 | missense variant | A/T | snv | 9 | |||
rs121909323 | 0.790 | 0.160 | 19 | 13277122 | stop gained | G/A | snv | 8 | |||
rs587777308 | 0.763 | 0.040 | 5 | 161873196 | missense variant | G/A | snv | 8 | |||
rs786200962 | 0.827 | 0.120 | 19 | 13298768 | frameshift variant | A/- | del | 7 | |||
rs1555889127 | 1.000 | 0.040 | 20 | 49374625 | missense variant | C/T | snv | 6 | |||
rs1555889162 | 0.882 | 0.040 | 20 | 49374931 | missense variant | G/A;C | snv | 6 | |||
rs879253767 | 0.882 | 0.080 | 2 | 165313738 | frameshift variant | T/- | delins | 6 | |||
rs879253748 | 0.882 | 0.040 | 5 | 161897251 | frameshift variant | C/- | del | 5 | |||
rs587776508 | 0.882 | 0.040 | 12 | 123253922 | frameshift variant | T/- | del | 4.0E-06 | 4 | ||
rs886039903 | 0.807 | 0.200 | 3 | 192335434 | missense variant | C/T | snv | 4 | |||
rs118192211 | 0.790 | 0.080 | 20 | 63439644 | missense variant | G/A;C | snv | 4 | |||
rs796053216 | 0.851 | 0.160 | 12 | 51790401 | stop gained | G/A;T | snv | 4 | |||
rs1555703272 | 0.925 | 0.080 | 17 | 81715568 | stop gained | A/T | snv | 4 | |||
rs747824231 | 0.882 | 0.040 | 6 | 31782361 | missense variant | C/G;T | snv | 4.1E-06 | 4 | ||
rs763777257 | 0.882 | 0.040 | 6 | 31785269 | stop gained | G/A | snv | 4.0E-06 | 4 | ||
rs1064794262 | 0.925 | 0.040 | 19 | 13303831 | frameshift variant | CT/- | del | 3 | |||
rs397514737 | 0.882 | 0.080 | 5 | 162149153 | missense variant | G/A | snv | 3 | |||
rs587777057 | 0.827 | 0.040 | 16 | 56336744 | missense variant | G/A | snv | 3 | |||
rs1135401733 | 1.000 | 0.040 | 1 | 244856757 | stop gained | G/A | snv | 3 |