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 | |||
rs587782798 | 0.807 | 0.400 | 16 | 68813322 | stop gained | C/T | snv | 7 | |||
rs876658932 | 0.807 | 0.400 | 16 | 68801726 | stop gained | C/G;T | snv | 7 | |||
rs1555515731 | 0.882 | 0.160 | 16 | 68812189 | frameshift variant | T/- | delins | 4 | |||
rs587780537 | 0.925 | 0.080 | 16 | 68810224 | missense variant | G/A | snv | 3 | |||
rs746481984 | 0.851 | 0.120 | 16 | 68819393 | missense variant | C/G;T | snv | 4.0E-06 | 3 | ||
rs876659384 | 0.851 | 0.240 | 17 | 7673552 | stop gained | C/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 | ||
rs121964877 | 0.851 | 0.160 | 16 | 68822081 | stop gained | C/G;T | snv | 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 |