Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs72547568 | 1.000 | 0.120 | 17 | 19657797 | missense variant | G/A | snv | 4.0E-06 | 2.1E-05 | 2 | |
rs72547573 | 0.925 | 0.200 | 17 | 19663486 | missense variant | C/T | snv | 2.1E-05 | 2 | ||
rs1567607328 | 1.000 | 0.120 | 17 | 19671822 | stop gained | A/T | snv | 1 | |||
rs387906256 | 1.000 | 0.120 | 17 | 19671805 | frameshift variant | GA/- | delins | 1 | |||
rs387906257 | 1.000 | 0.120 | 17 | 19671818 | frameshift variant | -/ACAAA | delins | 1 | |||
rs67939114 | 1.000 | 0.120 | 17 | 19671852 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
rs72547556 | 1.000 | 0.120 | 17 | 19651584 | missense variant | T/A | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs72547558 | 1.000 | 0.120 | 17 | 19651710 | missense variant | T/G | snv | 1 | |||
rs72547559 | 1.000 | 0.120 | 17 | 19651734 | missense variant | C/T | snv | 1 | |||
rs72547560 | 1.000 | 0.120 | 17 | 19651755 | missense variant | C/T | snv | 1 | |||
rs72547561 | 1.000 | 0.120 | 17 | 19656423 | stop gained | C/G;T | snv | 6.0E-05 | 1 | ||
rs72547562 | 1.000 | 0.120 | 17 | 19656445 | missense variant | C/T | snv | 2.4E-05 | 2.8E-05 | 1 | |
rs72547563 | 1.000 | 0.120 | 17 | 19656448 | missense variant | G/A;C | snv | 1.2E-05 | 1 | ||
rs72547564 | 1.000 | 0.120 | 17 | 19656535 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs72547565 | 1.000 | 0.120 | 17 | 19656572 | missense variant | C/G | snv | 4.1E-06 | 1 | ||
rs72547566 | 1.000 | 0.120 | 17 | 19657746 | missense variant | C/T | snv | 1.6E-05 | 1 | ||
rs72547567 | 1.000 | 0.120 | 17 | 19657774 | missense variant | G/A | snv | 1 | |||
rs72547569 | 1.000 | 0.120 | 17 | 19657862 | missense variant | G/C | snv | 4.0E-06; 8.0E-06 | 1 | ||
rs72547570 | 1.000 | 0.120 | 17 | 19661163 | missense variant | T/A | snv | 1 | |||
rs72547571 | 1.000 | 0.120 | 17 | 19663335 | missense variant | C/G;T | snv | 1.1E-04 | 1 | ||
rs72547572 | 1.000 | 0.120 | 17 | 19663376 | start lost | G/A;C | snv | 7.0E-06 | 1 | ||
rs72547575 | 1.000 | 0.120 | 17 | 19664997 | missense variant | A/G | snv | 1.6E-05 | 1.4E-05 | 1 | |
rs72547576 | 1.000 | 0.120 | 17 | 19671769 | missense variant | T/C | snv | 1 | |||
rs768290318 | 1.000 | 0.120 | 17 | 19671781 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs772967175 | 1.000 | 0.120 | 17 | 19656464 | frameshift variant | -/A | delins | 8.0E-06 | 1 |