Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057518916 | 3 | 38606034 | stop gained | G/A | snv | 1 | |||||
rs143149582 | 11 | 2588801 | missense variant | C/A | snv | 4.0E-06 | 1 | ||||
rs1178187217 | 0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 | 38 | ||
rs201943194 | 0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 | 38 | |
rs1805123 | 0.724 | 0.280 | 7 | 150948446 | missense variant | T/A;C;G | snv | 1.3E-05; 0.18; 8.4E-06 | 18 | ||
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 | |||
rs543860009 | 0.742 | 0.320 | 2 | 178589003 | stop gained | G/A;T | snv | 33 | |||
rs878854378 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 33 | |||
rs5751876 | 0.742 | 0.320 | 22 | 24441333 | synonymous variant | T/C | snv | 0.54 | 0.52 | 16 | |
rs7626962 | 0.790 | 0.080 | 3 | 38579416 | missense variant | G/A;T | snv | 1.6E-05; 5.9E-03 | 10 | ||
rs1247665387 | 0.807 | 0.360 | 16 | 74774623 | missense variant | C/A | snv | 7.0E-06 | 14 | ||
rs120074193 | 0.807 | 0.120 | 11 | 2572870 | missense variant | G/A;C | snv | 4.0E-06 | 7 | ||
rs766265889 | 0.827 | 0.240 | 2 | 178535508 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 11 | ||
rs199473605 | 0.851 | 0.120 | 3 | 38560374 | missense variant | C/G;T | snv | 4.8E-05; 4.0E-06 | 7 | ||
rs121912504 | 0.851 | 0.200 | 7 | 150951711 | missense variant | G/A | snv | 6 | |||
rs104894585 | 0.851 | 0.120 | 17 | 70175263 | missense variant | C/G;T | snv | 5 | |||
rs121434500 | 0.851 | 0.120 | 20 | 33410203 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 5 | |
rs199472823 | 0.851 | 0.240 | 11 | 2571328 | missense variant | T/C | snv | 5 | |||
rs199472730 | 0.882 | 0.120 | 11 | 2572895 | missense variant | C/G;T | snv | 5 | |||
rs104894485 | 0.882 | 0.080 | 15 | 73325378 | missense variant | C/T | snv | 3.6E-05 | 7.0E-06 | 4 | |
rs1554430943 | 0.925 | 0.160 | 7 | 150974821 | missense variant | C/T | snv | 4 | |||
rs1554919471 | 0.925 | 0.200 | 11 | 2768861 | frameshift variant | G/- | delins | 4 | |||
rs199473401 | 0.925 | 0.120 | 11 | 2570722 | missense variant | T/C | snv | 4 | |||
rs267606782 | 0.925 | 0.120 | X | 154379485 | start lost | A/G | snv | 4 |