Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104894360 | 0.724 | 0.560 | 12 | 25209904 | missense variant | T/A;C | snv | 14 | |||
rs1555509622 | 1.000 | 0.080 | 16 | 68737416 | start lost | A/G | snv | 1 | |||
rs1555509623 | 1.000 | 0.080 | 16 | 68737417 | start lost | T/C;G | snv | 2 | |||
rs878854691 | 1.000 | 0.080 | 16 | 68737418 | start lost | G/A | snv | 2 | |||
rs1555509636 | 1.000 | 0.080 | 16 | 68737427 | stop gained | G/A | snv | 1 | |||
rs1440280370 | 1.000 | 0.080 | 16 | 68737464 | splice donor variant | G/A;T | snv | 1 | |||
rs1060501226 | 1.000 | 0.080 | 16 | 68738295 | splice acceptor variant | A/G | snv | 1 | |||
rs121964875 | 1.000 | 0.080 | 16 | 68738307 | stop gained | G/A | snv | 1 | |||
rs786203576 | 1.000 | 0.080 | 16 | 68738308 | stop gained | G/A | snv | 2 | |||
rs121964876 | 1.000 | 0.080 | 16 | 68738318 | stop gained | G/T | snv | 1 | |||
rs786201058 | 1.000 | 0.080 | 16 | 68738324 | stop gained | G/C;T | snv | 2 | |||
rs876658865 | 1.000 | 0.080 | 16 | 68738372 | frameshift variant | CCC/T | delins | 2 | |||
rs587783047 | 1.000 | 0.080 | 16 | 68801693 | stop gained | C/T | snv | 2 | |||
rs786202151 | 1.000 | 0.080 | 16 | 68801708 | frameshift variant | T/- | del | 2 | |||
rs1555514406 | 1.000 | 0.080 | 16 | 68801709 | frameshift variant | -/T | delins | 1 | |||
rs876658932 | 0.807 | 0.400 | 16 | 68801726 | stop gained | C/G;T | snv | 7 | |||
rs1555514429 | 1.000 | 0.080 | 16 | 68801766 | frameshift variant | G/- | delins | 1 | |||
rs781409616 | 1.000 | 0.080 | 16 | 68801789 | stop gained | C/T | snv | 4.0E-06 | 1 | ||
rs1555514464 | 1.000 | 0.080 | 16 | 68801814 | stop gained | G/A | snv | 2 | |||
rs1064795703 | 1.000 | 0.080 | 16 | 68801820 | frameshift variant | C/- | delins | 1 | |||
rs876661106 | 1.000 | 0.080 | 16 | 68801843 | stop gained | A/G;T | snv | 4.0E-06 | 1 | ||
rs878854690 | 1.000 | 0.080 | 16 | 68801862 | frameshift variant | -/G | delins | 1 | |||
rs1567501500 | 1.000 | 0.080 | 16 | 68801874 | frameshift variant | -/CCGCCCC | delins | 1 | |||
rs1060501215 | 1.000 | 0.080 | 16 | 68801878 | frameshift variant | C/- | delins | 1 | |||
rs1555514492 | 1.000 | 0.080 | 16 | 68801885 | frameshift variant | C/- | delins | 2 |