Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2076101 | 0.925 | 0.080 | 22 | 39049549 | missense variant | G/A | snv | 0.52 | 0.44 | 3 | |
rs144553163 | 0.925 | 0.080 | 19 | 35299590 | missense variant | C/T | snv | 3.7E-03 | 3.9E-03 | 3 | |
rs34832477 | 0.925 | 0.120 | 10 | 133293066 | missense variant | G/A | snv | 4.0E-04 | 1.6E-03 | 3 | |
rs113994096 | 0.827 | 0.080 | 15 | 89325639 | missense variant | G/A | snv | 1.5E-03 | 1.6E-03 | 8 | |
rs113994094 | 0.827 | 0.080 | 15 | 89330184 | missense variant | G/A | snv | 1.5E-03 | 1.6E-03 | 6 | |
rs113994152 | 0.790 | 0.160 | 17 | 75522000 | missense variant | G/T | snv | 9.0E-04 | 9.0E-04 | 11 | |
rs150726175 | 0.776 | 0.200 | 1 | 9982630 | missense variant | G/A | snv | 7.0E-04 | 8.5E-04 | 11 | |
rs113994097 | 0.724 | 0.400 | 15 | 89323426 | missense variant | C/G | snv | 9.7E-04 | 7.9E-04 | 22 | |
rs144900171 | 0.925 | 12 | 79448968 | missense variant | C/G;T | snv | 1.3E-04 | 6.2E-04 | 5 | ||
rs80338848 | 0.851 | 0.240 | 7 | 107675051 | missense variant | T/C | snv | 2.7E-04 | 3.4E-04 | 6 | |
rs113994098 | 0.742 | 0.320 | 15 | 89321792 | missense variant | C/T | snv | 1.5E-04 | 2.7E-04 | 12 | |
rs147484110 | 0.807 | 0.200 | 21 | 43774760 | splice acceptor variant | C/G | snv | 1.5E-04 | 2.7E-04 | 11 | |
rs139632595 | 0.807 | 0.160 | 4 | 121801465 | missense variant | T/C | snv | 6.0E-05 | 2.5E-04 | 19 | |
rs142441643 | 0.732 | 0.320 | 5 | 223509 | stop gained | C/T | snv | 2.0E-04 | 2.4E-04 | 15 | |
rs142375870 | 0.925 | 0.080 | 19 | 35302594 | missense variant | A/C | snv | 2.3E-04 | 2.2E-04 | 3 | |
rs138632121 | 0.776 | 0.400 | 16 | 3026140 | missense variant | T/A | snv | 1.7E-04 | 2.0E-04 | 13 | |
rs376103091 | 0.851 | 0.200 | 16 | 23544677 | missense variant | G/A | snv | 1.5E-04 | 2.0E-04 | 10 | |
rs777686211 | 0.851 | 0.200 | 5 | 37226776 | frameshift variant | A/-;AA | delins | 1.8E-04 | 5 | ||
rs150712932 | 0.925 | 0.040 | 3 | 47408451 | missense variant | C/T | snv | 1.4E-04 | 1.6E-04 | 2 | |
rs138504221 | 0.807 | 0.280 | 17 | 80212128 | missense variant | A/G | snv | 9.6E-05 | 1.5E-04 | 9 | |
rs104894396 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 28 | |
rs137852832 | 0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 | 17 | |
rs756421370 | 0.807 | 0.120 | 1 | 29200513 | splice donor variant | -/A | delins | 1.4E-04 | 6.3E-05 | 8 | |
rs372949028 | 0.827 | 0.240 | 22 | 20061684 | splice donor variant | G/A;C | snv | 7.1E-05 | 5.6E-05 | 13 | |
rs72664233 | 0.882 | 0.200 | 16 | 16157770 | frameshift variant | A/- | del | 8.4E-05 | 4.9E-05 | 10 |