Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs587780537 | 0.925 | 0.080 | 16 | 68810224 | missense variant | G/A | snv | 3 | |||
rs1057517542 | 1.000 | 0.080 | 16 | 68829653 | splice acceptor variant | G/A | snv | 2 | |||
rs1060501244 | 1.000 | 0.080 | 16 | 68828204 | missense variant | G/A;T | snv | 8.0E-06 | 2 | ||
rs1131690808 | 1.000 | 0.080 | 16 | 68808568 | splice donor variant | G/A;T | snv | 2 | |||
rs1131690810 | 1.000 | 0.080 | 16 | 68815725 | stop gained | C/T | snv | 2 | |||
rs1131690815 | 1.000 | 0.080 | 16 | 68808483 | frameshift variant | CAGAAGA/-;CAGAAGACAGAAGA | delins | 2 | |||
rs1131690819 | 1.000 | 0.080 | 16 | 68810229 | frameshift variant | T/- | del | 2 | |||
rs113583899 | 1.000 | 0.080 | 16 | 68819279 | splice acceptor variant | G/C | snv | 7.0E-06 | 2 | ||
rs121964873 | 0.925 | 0.080 | 16 | 68810290 | stop gained | G/A;T | snv | 1.2E-05 | 2 | ||
rs1385720097 | 1.000 | 0.080 | 16 | 68828173 | splice acceptor variant | G/C;T | snv | 2 | |||
rs1555509623 | 1.000 | 0.080 | 16 | 68737417 | start lost | T/C;G | snv | 2 | |||
rs1555514464 | 1.000 | 0.080 | 16 | 68801814 | stop gained | G/A | snv | 2 | |||
rs1555514492 | 1.000 | 0.080 | 16 | 68801885 | frameshift variant | C/- | delins | 2 | |||
rs1555515214 | 1.000 | 0.080 | 16 | 68808493 | frameshift variant | AAGA/- | del | 2 | |||
rs1555515739 | 1.000 | 0.080 | 16 | 68812211 | frameshift variant | T/- | del | 2 | |||
rs1555516200 | 1.000 | 0.080 | 16 | 68815760 | splice donor variant | -/T;TT | delins | 2 | |||
rs1555517074 | 1.000 | 0.080 | 16 | 68823409 | frameshift variant | AT/-;ATAT | delins | 2 | |||
rs1555517100 | 1.000 | 0.080 | 16 | 68823489 | frameshift variant | -/C | delins | 2 | |||
rs1555518210 | 1.000 | 0.080 | 16 | 68833288 | splice acceptor variant | A/G | snv | 2 | |||
rs1555518211 | 1.000 | 0.080 | 16 | 68833296 | stop gained | A/G;T | snv | 2 | |||
rs1555518221 | 1.000 | 0.080 | 16 | 68833320 | frameshift variant | -/C | delins | 2 | |||
rs1555518239 | 1.000 | 0.080 | 16 | 68833356 | stop gained | G/T | snv | 2 | |||
rs267606712 | 1.000 | 0.080 | 16 | 68811859 | missense variant | G/A;T | snv | 2 | |||
rs587780113 | 1.000 | 0.080 | 16 | 68815760 | splice donor variant | G/A;C;T | snv | 2 | |||
rs587780784 | 1.000 | 0.080 | 16 | 68811854 | stop gained | C/G;T | snv | 1.6E-05; 8.0E-06 | 2 |