Source: CURATED
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs72554651 | 1.000 | 0.160 | X | 78029350 | missense variant | T/C | snv | 1 | |||
rs72554652 | 1.000 | 0.160 | X | 78029389 | missense variant | G/A | snv | 1 | |||
rs72554654 | 1.000 | 0.160 | X | 78033663 | missense variant | G/A | snv | 1 | |||
rs72554655 | 1.000 | 0.160 | X | 78040695 | missense variant | G/A | snv | 1 | |||
rs72554657 | 1.000 | 0.160 | X | 78042687 | missense variant | G/A | snv | 1 | |||
rs794729231 | 1.000 | 0.160 | X | 78011448 | splice acceptor variant | G/A;C | snv | 1 | |||
rs797045325 | 1.000 | 0.160 | X | 77989628 | stop gained | G/T | snv | 1 | |||
rs797045327 | 1.000 | 0.160 | X | 77989640 | frameshift variant | -/GGGGC | delins | 1 | |||
rs797045329 | 1.000 | 0.160 | X | 77998496 | frameshift variant | T/- | del | 1 | |||
rs797045330 | 1.000 | 0.160 | X | 77998601 | stop gained | C/A | snv | 1 | |||
rs797045331 | 1.000 | 0.160 | X | 78003072 | splice acceptor variant | G/A | snv | 1 | |||
rs797045333 | 1.000 | 0.160 | X | 78003195 | frameshift variant | TA/- | delins | 1 | |||
rs797045336 | 1.000 | 0.160 | X | 78009176 | stop gained | C/G | snv | 1 | |||
rs797045337 | 1.000 | 0.160 | X | 78009225 | stop gained | G/T | snv | 1 | |||
rs797045338 | 1.000 | 0.160 | X | 78011175 | splice acceptor variant | G/C | snv | 1 | |||
rs797045339 | 1.000 | 0.160 | X | 78011180 | stop gained | T/G | snv | 1 | |||
rs797045340 | 1.000 | 0.160 | X | 78011253 | splice donor variant | G/C | snv | 1 | |||
rs797045341 | 1.000 | 0.160 | X | 78011257 | splice region variant | G/A | snv | 1 | |||
rs797045342 | 1.000 | 0.160 | X | 78011452 | stop gained | G/A | snv | 1 | |||
rs797045343 | 1.000 | 0.160 | X | 78011478 | frameshift variant | -/TTCTGTATTCCTGTAATGGGGCTGATGATAT | delins | 1 | |||
rs797045344 | 1.000 | 0.160 | X | 78011498 | missense variant | G/A;C | snv | 1 | |||
rs797045346 | 1.000 | 0.160 | X | 78011662 | stop gained | T/A | snv | 1 | |||
rs797045347 | 1.000 | 0.160 | X | 78011679 | splice region variant | G/C | snv | 1 | |||
rs797045348 | 1.000 | 0.160 | X | 78011674 | missense variant | G/T | snv | 1 | |||
rs797045349 | 1.000 | 0.160 | X | 78012877 | splice acceptor variant | A/G | snv | 1 |