Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1567753329 | 1.000 | 0.120 | 17 | 50187059 | missense variant | C/T | snv | 1 | |||
rs72656323 | 1.000 | 0.120 | 17 | 50187076 | missense variant | C/T | snv | 1 | |||
rs1555571942 | 1.000 | 0.120 | 17 | 50187114 | frameshift variant | -/G | delins | 1 | |||
rs370865189 | 1.000 | 0.120 | 17 | 50187128 | splice region variant | G/A;C;T | snv | 4.5E-06; 6.6E-04 | 1 | ||
rs72656314 | 0.925 | 0.120 | 17 | 50187486 | stop gained | G/A;T | snv | 2 | |||
rs1555572013 | 1.000 | 0.120 | 17 | 50187500 | missense variant | C/G | snv | 1 | |||
rs1567753699 | 1.000 | 0.120 | 17 | 50187518 | missense variant | C/T | snv | 1 | |||
rs1555572120 | 1.000 | 0.120 | 17 | 50187959 | frameshift variant | -/G | delins | 1 | |||
rs1555572121 | 1.000 | 0.120 | 17 | 50187960 | frameshift variant | -/TC | delins | 1 | |||
rs1555572161 | 1.000 | 0.120 | 17 | 50188112 | frameshift variant | C/- | delins | 1 | |||
rs1114167398 | 1.000 | 0.120 | 17 | 50188121 | frameshift variant | CGAC/- | delins | 1 | |||
rs72654802 | 0.882 | 0.120 | 17 | 50188122 | missense variant | C/T | snv | 3 | |||
rs1567754277 | 1.000 | 0.120 | 17 | 50188132 | frameshift variant | G/- | delins | 1 | |||
rs1555572239 | 1.000 | 0.120 | 17 | 50188529 | splice donor variant | C/G;T | snv | 1 | |||
rs72654799 | 0.882 | 0.200 | 17 | 50188541 | missense variant | G/A;C | snv | 6.4E-05 | 3 | ||
rs1567754589 | 1.000 | 0.120 | 17 | 50188577 | frameshift variant | CACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGG/- | delins | 1 | |||
rs72653173 | 0.925 | 0.120 | 17 | 50188765 | stop gained | G/A;C | snv | 4.0E-06 | 2 | ||
rs1114167382 | 1.000 | 0.120 | 17 | 50188902 | splice donor variant | C/T | snv | 1 | |||
rs72653170 | 0.752 | 0.240 | 17 | 50188908 | missense variant | G/A | snv | 8.0E-06 | 10 | ||
rs1114167396 | 1.000 | 0.120 | 17 | 50188922 | frameshift variant | G/- | delins | 1 | |||
rs72653168 | 1.000 | 0.120 | 17 | 50188940 | frameshift variant | G/- | delins | 1 | |||
rs1114167395 | 1.000 | 0.120 | 17 | 50189171 | frameshift variant | G/- | delins | 1 | |||
rs1555572401 | 1.000 | 0.120 | 17 | 50189194 | frameshift variant | TCTC/- | delins | 1 | |||
rs1114167381 | 1.000 | 0.120 | 17 | 50189224 | frameshift variant | C/- | delins | 1 | |||
rs797045033 | 1.000 | 0.120 | 17 | 50189239 | missense variant | C/T | snv | 1 |