Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs17708087 | 1.000 | 0.080 | 17 | 40514261 | upstream gene variant | A/G | snv | 0.15 | 1 | ||
rs1800791 | 1.000 | 0.080 | 4 | 154562157 | upstream gene variant | G/A | snv | 0.15 | 1 | ||
rs2003334 | 1.000 | 0.080 | 3 | 126103160 | upstream gene variant | C/T | snv | 0.36 | 1 | ||
rs2233872 | 1.000 | 0.080 | 9 | 34691559 | upstream gene variant | A/G | snv | 0.21 | 1 | ||
rs35706870 | 1.000 | 0.080 | 10 | 67883859 | upstream gene variant | A/C;G | snv | 1 | |||
rs4653579 | 1.000 | 0.080 | 1 | 224330652 | upstream gene variant | T/A;C | snv | 1 | |||
rs822387 | 1.000 | 0.080 | 3 | 186838248 | upstream gene variant | T/C | snv | 0.15 | 1 | ||
rs3200401 | 0.742 | 0.320 | 11 | 65504361 | splice region variant | C/T | snv | 0.17 | 0.17 | 11 | |
rs72664208 | 0.882 | 0.240 | 16 | 16182799 | splice region variant | C/T | snv | 7.0E-06 | 7 | ||
rs72664207 | 0.882 | 0.240 | 16 | 16185039 | splice region variant | A/C | snv | 2.4E-05 | 1.4E-05 | 6 | |
rs8089 | 0.851 | 0.080 | 6 | 169217631 | splice region variant | A/C | snv | 0.22 | 4 | ||
rs501192 | 0.925 | 0.200 | 11 | 105029658 | splice region variant | C/T | snv | 0.17 | 0.15 | 3 | |
rs4363 | 1.000 | 0.080 | 17 | 63497131 | splice region variant | G/A;C | snv | 0.52 | 2 | ||
rs14309 | 1.000 | 0.080 | 17 | 7015774 | splice region variant | T/C | snv | 0.80 | 0.76 | 1 | |
rs2243093 | 1.000 | 0.080 | 17 | 4932600 | splice region variant | T/C | snv | 0.16 | 0.17 | 1 | |
rs63750273 | 0.851 | 0.240 | 16 | 16157810 | splice acceptor variant | C/T | snv | 4.1E-05 | 1.4E-05 | 9 | |
rs121909613 | 0.882 | 0.160 | 4 | 154585712 | splice acceptor variant | G/A;C;T | snv | 4.8E-05; 4.0E-06 | 5 | ||
rs767910122 | 0.724 | 0.280 | 7 | 150948446 | frameshift variant | -/GTCCG | ins | 4.4E-05 | 17 | ||
rs794728448 | 0.724 | 0.280 | 7 | 150948445 | frameshift variant | CT/G | delins | 17 | |||
rs1275805226 | 0.776 | 0.240 | 1 | 230706148 | frameshift variant | G/- | del | 7.0E-06 | 12 | ||
rs1432422306 | 0.925 | 0.120 | 4 | 154586432 | frameshift variant | TTCCAGT/- | del | 4.0E-06 | 3 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs11614913 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 111 | |
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 | |
rs3212227 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 65 |