Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2287497 | 0.882 | 0.120 | 17 | 7689462 | intron variant | G/A | snv | 0.25 | 3 | ||
rs281865547 | 0.925 | 0.120 | 17 | 7689284 | missense variant | C/A | snv | 2 | |||
rs1213207387 | 1.000 | 0.120 | 17 | 7689255 | stop gained | C/G;T | snv | 4.0E-06 | 1 | ||
rs2287498 | 0.882 | 0.120 | 17 | 7689242 | synonymous variant | C/T | snv | 0.13 | 0.14 | 4 | |
rs2287499 | 0.925 | 0.080 | 17 | 7688850 | missense variant | C/G;T | snv | 0.20 | 4 | ||
rs8064946 | 0.851 | 0.080 | 17 | 7685993 | non coding transcript exon variant | G/C | snv | 0.32 | 4 | ||
rs2078486 | 0.882 | 0.080 | 17 | 7679765 | intron variant | G/A;C | snv | 3 | |||
rs12602273 | 0.851 | 0.080 | 17 | 7679695 | intron variant | C/G | snv | 0.15 | 4 | ||
rs8078476 | 17 | 7677910 | intron variant | G/A | snv | 4.6E-02 | 2 | ||||
rs8079544 | 1.000 | 0.040 | 17 | 7676734 | intron variant | C/T | snv | 7.4E-02 | 2 | ||
rs143458271 | 0.925 | 0.080 | 17 | 7676589 | synonymous variant | C/T | snv | 9.2E-05 | 8.4E-05 | 2 | |
rs587782646 | 0.925 | 0.080 | 17 | 7676576 | missense variant | C/G | snv | 4.0E-06 | 2 | ||
rs1555527002 | 1.000 | 0.120 | 17 | 7676556 | frameshift variant | -/G | delins | 1 | |||
rs1555526997 | 1.000 | 0.120 | 17 | 7676550 | frameshift variant | A/- | del | 1 | |||
rs876658627 | 17 | 7676543 | frameshift variant | T/- | delins | 1 | |||||
rs1131691018 | 17 | 7676537 | frameshift variant | A/- | delins | 1 | |||||
rs1642785 | 0.807 | 0.200 | 17 | 7676483 | 5 prime UTR variant | G/A;C;T | snv | 1.2E-05; 0.67; 2.8E-05 | 6 | ||
rs1131691020 | 17 | 7676405 | splice acceptor variant | T/C | snv | 1 | |||||
rs397516438 | 1.000 | 0.120 | 17 | 7676398 | splice acceptor variant | GGAA/ACGTTCTT | delins | 2 | |||
rs1555526931 | 1.000 | 0.120 | 17 | 7676392 | frameshift variant | T/- | delins | 1 | |||
rs1011445550 | 0.925 | 0.080 | 17 | 7676391 | missense variant | G/C | snv | 2 | |||
rs201753350 | 1.000 | 0.120 | 17 | 7676387 | missense variant | C/A;T | snv | 2.5E-04; 4.0E-06 | 1 | ||
rs1131691003 | 0.752 | 0.360 | 17 | 7676381 | splice donor variant | C/A;G | snv | 12 | |||
rs1131691015 | 17 | 7676379 | splice donor variant | -/A | delins | 1 | |||||
rs1555526916 | 17 | 7676378 | splice donor variant | ACCAGAACGTTGTTT/- | delins | 1 |