Source: CURATED
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1569549974 | 0.882 | 0.240 | X | 78014722 | frameshift variant | G/- | del | 3 | |||
rs1569549587 | 1.000 | 0.160 | X | 77988529 | frameshift variant | CAATCAGA/- | del | 1 | |||
rs797045329 | 1.000 | 0.160 | X | 77998496 | frameshift variant | T/- | del | 1 | |||
rs797045353 | 1.000 | 0.160 | X | 78013008 | frameshift variant | G/- | del | 1 | |||
rs797045375 | 1.000 | 0.160 | X | 78033650 | frameshift variant | G/- | del | 1 | |||
rs797045400 | 1.000 | 0.160 | X | 77989498 | frameshift variant | G/- | del | 1 | |||
rs797045397 | 0.882 | 0.240 | X | 77988541 | frameshift variant | AG/- | delins | 3 | |||
rs797045327 | 1.000 | 0.160 | X | 77989640 | frameshift variant | -/GGGGC | delins | 1 | |||
rs797045333 | 1.000 | 0.160 | X | 78003195 | frameshift variant | TA/- | delins | 1 | |||
rs797045343 | 1.000 | 0.160 | X | 78011478 | frameshift variant | -/TTCTGTATTCCTGTAATGGGGCTGATGATAT | delins | 1 | |||
rs797045352 | 1.000 | 0.160 | X | 78012951 | frameshift variant | -/ATTG | delins | 5.5E-06 | 1 | ||
rs797045355 | 1.000 | 0.160 | X | 78013101 | frameshift variant | CATATAGCAAA/AGCATC | delins | 1 | |||
rs797045356 | 1.000 | 0.160 | X | 78013111 | splice donor variant | AGG/T | delins | 1 | |||
rs797045358 | 1.000 | 0.160 | X | 78015751 | coding sequence variant | -/GTGAAGA | delins | 1 | |||
rs797045361 | 1.000 | 0.160 | X | 78020261 | frameshift variant | -/C | delins | 1 | |||
rs797045364 | 1.000 | 0.160 | X | 78021080 | splice region variant | AAGT/- | delins | 1 | |||
rs797045366 | 1.000 | 0.160 | X | 78029400 | inframe deletion | CATACTAATAAAAGG/- | delins | 1 | |||
rs797045368 | 1.000 | 0.160 | X | 78031411 | frameshift variant | G/- | delins | 1 | |||
rs797045369 | 1.000 | 0.160 | X | 78031415 | protein altering variant | TTTGA/AGTACAGG | delins | 1 | |||
rs797045380 | 1.000 | 0.160 | X | 78038859 | frameshift variant | A/- | delins | 1 | |||
rs797045383 | 1.000 | 0.160 | X | 78040706 | stop gained | T/ATGACTGG | delins | 1 | |||
rs797045384 | 1.000 | 0.160 | X | 78040707 | frameshift variant | AA/TTAC | delins | 1 | |||
rs797045389 | 1.000 | 0.160 | X | 78042700 | frameshift variant | C/- | delins | 1 | |||
rs797045392 | 1.000 | 0.160 | X | 78043322 | inframe deletion | TCT/- | delins | 1 | |||
rs797045395 | 1.000 | 0.160 | X | 78045477 | frameshift variant | -/A | delins | 1 |