Source: CURATED
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057517563 | 1.000 | 0.080 | 16 | 23603595 | frameshift variant | A/- | delins | 1 | |||
rs1057517602 | 1.000 | 0.080 | 16 | 23630316 | frameshift variant | T/- | del | 1 | |||
rs1060502738 | 1.000 | 0.080 | 16 | 23635994 | frameshift variant | G/- | del | 1 | |||
rs1060502748 | 1.000 | 0.080 | 16 | 23629779 | stop gained | G/C | snv | 1 | |||
rs1060502761 | 1.000 | 0.080 | 16 | 23635111 | stop gained | G/A;T | snv | 1 | |||
rs1060502764 | 1.000 | 0.080 | 16 | 23603671 | splice acceptor variant | T/C | snv | 1 | |||
rs1060502771 | 1.000 | 0.080 | 16 | 23630098 | frameshift variant | T/- | delins | 1 | |||
rs1060502772 | 1.000 | 0.080 | 16 | 23635613 | frameshift variant | -/G | ins | 1 | |||
rs1060502781 | 1.000 | 0.080 | 16 | 23623029 | frameshift variant | C/- | del | 1 | |||
rs1060502785 | 1.000 | 0.080 | 16 | 23635180 | stop gained | C/A | snv | 1 | |||
rs1060502788 | 1.000 | 0.080 | 16 | 23635498 | stop gained | G/A | snv | 1 | |||
rs1060502803 | 1.000 | 0.080 | 16 | 23630412 | frameshift variant | A/- | delins | 1 | |||
rs1064795953 | 1.000 | 0.080 | 16 | 23635998 | frameshift variant | C/- | del | 1 | |||
rs1218512317 | 1.000 | 0.080 | 16 | 23607890 | stop gained | G/C;T | snv | 4.0E-06 | 1 | ||
rs1304351755 | 1.000 | 0.080 | 16 | 23626334 | stop gained | C/A;G;T | snv | 7.0E-06 | 1 | ||
rs139555085 | 1.000 | 0.080 | 16 | 23636146 | missense variant | C/T | snv | 3.0E-04 | 1.6E-03 | 1 | |
rs141047069 | 0.925 | 0.080 | 16 | 23638074 | missense variant | A/G | snv | 1 | |||
rs1555457841 | 1.000 | 0.080 | 16 | 23603497 | stop gained | G/A | snv | 1 | |||
rs1555458187 | 1.000 | 0.080 | 16 | 23607907 | frameshift variant | -/GCTGAGAG | delins | 1 | |||
rs1555459553 | 1.000 | 0.080 | 16 | 23623050 | frameshift variant | A/- | del | 1 | |||
rs1555459709 | 1.000 | 0.080 | 16 | 23624025 | frameshift variant | C/- | delins | 1 | |||
rs1555459949 | 1.000 | 0.080 | 16 | 23626290 | stop gained | C/T | snv | 1 | |||
rs1555460325 | 1.000 | 0.080 | 16 | 23629691 | frameshift variant | ATTTTCTT/- | del | 1 | |||
rs1555460334 | 1.000 | 0.080 | 16 | 23629723 | frameshift variant | AG/- | delins | 1 | |||
rs1555460533 | 1.000 | 0.080 | 16 | 23630170 | stop gained | T/A | snv | 1 |