Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs267606782 | 0.925 | 0.120 | X | 154379485 | start lost | A/G | snv | 4 | |||
rs5751876 | 0.742 | 0.320 | 22 | 24441333 | synonymous variant | T/C | snv | 0.54 | 0.52 | 16 | |
rs121434500 | 0.851 | 0.120 | 20 | 33410203 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 5 | |
rs139467962 | 1.000 | 0.120 | 20 | 33412702 | missense variant | G/A | snv | 1.6E-05 | 4.9E-05 | 2 | |
rs104894585 | 0.851 | 0.120 | 17 | 70175263 | missense variant | C/G;T | snv | 5 | |||
rs1247665387 | 0.807 | 0.360 | 16 | 74774623 | missense variant | C/A | snv | 7.0E-06 | 14 | ||
rs104894485 | 0.882 | 0.080 | 15 | 73325378 | missense variant | C/T | snv | 3.6E-05 | 7.0E-06 | 4 | |
rs786205753 | 0.925 | 0.080 | 12 | 2593255 | missense variant | G/A | snv | 3 | |||
rs120074193 | 0.807 | 0.120 | 11 | 2572870 | missense variant | G/A;C | snv | 4.0E-06 | 7 | ||
rs199472730 | 0.882 | 0.120 | 11 | 2572895 | missense variant | C/G;T | snv | 5 | |||
rs199472823 | 0.851 | 0.240 | 11 | 2571328 | missense variant | T/C | snv | 5 | |||
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 | |||
rs120074179 | 0.925 | 0.120 | 11 | 2572089 | missense variant | G/A;C;T | snv | 3 | |||
rs1554920808 | 1.000 | 0.120 | 11 | 2776991 | missense variant | A/G | snv | 3 | |||
rs199472756 | 0.925 | 0.120 | 11 | 2583486 | missense variant | G/A | snv | 3 | |||
rs199473442 | 1.000 | 0.120 | 11 | 2445103 | missense variant | C/G;T | snv | 3 | |||
rs199472718 | 1.000 | 0.120 | 11 | 2572102 | missense variant | A/C;G | snv | 2 | |||
rs199473470 | 1.000 | 0.120 | 11 | 2583472 | missense variant | C/A | snv | 2 | |||
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 |