Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057517551 | 1.000 | 0.160 | 2 | 47798890 | frameshift variant | -/T | delins | 3 | |||
rs1057517552 | 1.000 | 0.160 | 2 | 47803459 | frameshift variant | GTCCTATG/- | delins | 1 | |||
rs1553331659 | 1.000 | 0.160 | 2 | 47803615 | frameshift variant | A/-;AA | delins | 2 | |||
rs1553333093 | 1.000 | 0.160 | 2 | 47806310 | frameshift variant | GTAGAAGATTA/- | delins | 1 | |||
rs1553333370 | 1.000 | 0.160 | 2 | 47806485 | frameshift variant | CCAGGAG/- | delins | 1 | |||
rs1553333753 | 0.925 | 0.160 | 2 | 47806643 | splice donor variant | -/ATTT | delins | 4 | |||
rs1553408127 | 1.000 | 0.160 | 2 | 47783288 | frameshift variant | G/- | del | 1 | |||
rs1553408245 | 1.000 | 0.160 | 2 | 47783357 | frameshift variant | -/CTTCCCCA | delins | 1 | |||
rs1553408380 | 1.000 | 0.160 | 2 | 47783445 | splice donor variant | TCAACGGAGGGCTGCGGAGATCGGTAGCGCCTGCTGCCCCCACC/- | delins | 1 | |||
rs1553410230 | 1.000 | 0.160 | 2 | 47790975 | stop gained | C/A;T | snv | 1 | |||
rs1553414029 | 1.000 | 0.160 | 2 | 47800675 | frameshift variant | CC/- | del | 1 | |||
rs1553414239 | 0.925 | 0.160 | 2 | 47800856 | frameshift variant | AG/- | del | 2 | |||
rs1553414395 | 0.925 | 0.160 | 2 | 47801001 | stop gained | C/A;G;T | snv | 3 | |||
rs193922343 | 0.925 | 0.160 | 2 | 47806254 | frameshift variant | AGAA/-;AGAAAAGAA;AGAAAGAA | delins | 4 | |||
rs267608041 | 1.000 | 0.160 | 2 | 47798718 | frameshift variant | A/-;AA | delins | 7.0E-06 | 3 | ||
rs267608058 | 0.851 | 0.200 | 2 | 47800130 | frameshift variant | TCAG/- | delins | 7.0E-06 | 6 | ||
rs267608064 | 0.925 | 0.160 | 2 | 47799614 | frameshift variant | AAAA/-;AA | delins | 4 | |||
rs267608066 | 0.925 | 0.160 | 2 | 47798713 | stop gained | C/G;T | snv | 2 | |||
rs267608077 | 0.925 | 0.160 | 2 | 47799112 | frameshift variant | AGAGA/- | delins | 4 | |||
rs267608078 | 0.882 | 0.160 | 2 | 47803501 | frameshift variant | C/-;CC;CCC | delins | 5 | |||
rs267608092 | 0.925 | 0.160 | 2 | 47803553 | frameshift variant | TT/-;T;TTT | delins | 4 | |||
rs267608094 | 0.925 | 0.160 | 2 | 47806641 | stop gained | C/A;T | snv | 4.1E-06; 4.1E-06 | 4 | ||
rs267608098 | 0.925 | 0.160 | 2 | 47804908 | splice acceptor variant | A/G;T | snv | 4 | |||
rs267608120 | 0.925 | 0.160 | 2 | 47806606 | frameshift variant | CAAG/- | delins | 4 | |||
rs267608121 | 0.925 | 0.160 | 2 | 47806630 | frameshift variant | -/GTCA | delins | 4 |