Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121434259 | 0.925 | 0.160 | 22 | 29636805 | stop gained | C/T | snv | 2 | |||
rs74315496 | 1.000 | 0.160 | 22 | 29661313 | stop gained | C/T | snv | 2 | |||
rs74315503 | 0.925 | 0.200 | 22 | 29674882 | stop gained | G/A;T | snv | 9.6E-05 | 2 | ||
rs587776932 | 0.925 | 0.280 | 3 | 179230077 | missense variant | G/A | snv | 2 | |||
rs1060503666 | 1.000 | 0.160 | 22 | 29661203 | splice acceptor variant | A/G | snv | 1 | |||
rs1060503667 | 1.000 | 0.160 | 22 | 29642270 | stop gained | C/G;T | snv | 8.0E-06 | 1 | ||
rs1060503670 | 1.000 | 0.160 | 22 | 29655592 | splice acceptor variant | A/G | snv | 1 | |||
rs121434260 | 1.000 | 0.160 | 22 | 29639134 | inframe deletion | CTT/- | delins | 1 | |||
rs121434261 | 1.000 | 0.160 | 22 | 29636821 | missense variant | T/C | snv | 1 | |||
rs1351350515 | 1.000 | 0.160 | 22 | 29665062 | splice region variant | C/T | snv | 4.0E-06 | 1 | ||
rs1555978356 | 1.000 | 0.160 | 22 | 29604041 | stop gained | A/T | snv | 1 | |||
rs1555978369 | 1.000 | 0.160 | 22 | 29604056 | frameshift variant | AAGA/GT | delins | 1 | |||
rs1555986860 | 1.000 | 0.160 | 22 | 29636758 | stop gained | G/A | snv | 1 | |||
rs1555987647 | 1.000 | 0.160 | 22 | 29639122 | frameshift variant | A/- | del | 1 | |||
rs1555987732 | 1.000 | 0.160 | 22 | 29639201 | inframe deletion | CTT/- | delins | 1 | |||
rs1555992948 | 1.000 | 0.160 | 22 | 29654671 | frameshift variant | C/- | delins | 1 | |||
rs1555993301 | 1.000 | 0.160 | 22 | 29655633 | frameshift variant | GA/- | delins | 1 | |||
rs1555993313 | 1.000 | 0.160 | 22 | 29655640 | frameshift variant | TT/- | del | 1 | |||
rs1555993336 | 1.000 | 0.160 | 22 | 29655663 | stop gained | C/T | snv | 1 | |||
rs1555993345 | 1.000 | 0.160 | 22 | 29655669 | stop gained | C/T | snv | 1 | |||
rs1555993352 | 1.000 | 0.160 | 22 | 29655677 | splice donor variant | G/T | snv | 1 | |||
rs1555994819 | 1.000 | 0.160 | 22 | 29658245 | frameshift variant | -/A | ins | 1 | |||
rs1555994854 | 1.000 | 0.160 | 22 | 29658265 | splice donor variant | G/A;C | snv | 1 | |||
rs1555998851 | 1.000 | 0.160 | 22 | 29668415 | frameshift variant | C/- | delins | 1 | |||
rs1556001351 | 1.000 | 0.160 | 22 | 29674840 | frameshift variant | AA/- | delins | 1 |